Ask OpenScientist

Ask a research question about Takayasu Arteritis. OpenScientist will conduct autonomous deep research using the Disorder Mechanisms Knowledge Base and PubMed literature (typically 10-30 minutes).

Submitting...

Do not include personal health information in your question. Questions and results are cached in your browser's local storage.

3
Pathophys.
52
Phenotypes
4
Pathograph
3
Genes
4
Medical Actions
1
Deep Research

Pathophysiology

3
Granulomatous Vascular Inflammation
T-cell and macrophage-mediated granulomatous inflammation targets the adventitia and media of the aorta and major branches. CD4+ and CD8+ T cells, Th17 cells, and dendritic cells infiltrate the vessel wall, along with macrophages and multinucleated giant cells. Dendritic cells with upregulated TLR signaling release IL-12 and IL-23, recruiting vasculitogenic T cells. Th1/Th17 subsets contribute via IFN-gamma/IL-17/IL-6 pathways. This inflammatory infiltrate leads to intimal hyperplasia, medial destruction, and adventitial fibrosis. IL-6 plays a key role in driving the inflammatory cascade.
CD4+ T cell CL:0000624 CD8+ T cell CL:0000625 T-helper 17 cell CL:0000899 Dendritic cell CL:0000451 Macrophage CL:0000235 Multinucleated giant cell CL:0000647 Vascular smooth muscle cell CL:0000192
Inflammatory response GO:0006954 T cell mediated immunity GO:0002456 Macrophage activation GO:0042116
Show evidence (2 references)
PMID:29191819 PARTIAL Human Clinical
"To investigate the efficacy and safety of the interleukin-6 receptor antibody tocilizumab in patients with Takayasu arteritis (TAK)."
The TAKT study targets IL-6 receptor signaling, confirming the central role of IL-6 in TAK pathogenesis.
PMID:33026580 SUPPORT Human Clinical
"Medical treatment, based on pathogenetic insights into the roles of humoral and cell-mediated immune mechanisms, included glucocorticoids mostly combined with steroid-sparing immunosuppressive agents and, in patients with relapsing/refractory disease, biologic drugs."
The Italian cohort study confirms the role of both humoral and cell-mediated immune mechanisms in TAK pathogenesis.
Vascular Remodeling and Stenosis
Chronic inflammation of the arterial wall leads to intimal hyperplasia, medial smooth muscle cell destruction, and adventitial fibrosis. These structural changes result in segmental stenosis, occlusion, dilatation, and aneurysm formation. Stenotic lesions are far more common than aneurysms.
Extracellular matrix organization GO:0030198
Show evidence (1 reference)
PMID:7909656 SUPPORT Human Clinical
"Sixty-eight percent of patients had extensive vascular disease; stenotic lesions were 3.6-fold more common than were aneurysms (98% compared with 27%)."
The NIH cohort demonstrates that stenotic lesions predominate over aneurysmal disease, confirming the vascular remodeling pattern.
HLA-B*52 Genetic Susceptibility
The HLA-B*52:01 allele is the strongest genetic susceptibility factor for Takayasu arteritis across multiple populations. IL12B and MLX loci also contribute to disease susceptibility. HLA-B*52:01 is associated not only with disease susceptibility but also with clinical phenotype severity.
Immune response GO:0006955
Show evidence (3 references)
PMID:27815653 SUPPORT Human Clinical
"The HLA-B*52 allele was found to be associated with TA (pooled OR 3.91, 95 % CI 3.22-4.74, P < 0.0001)."
Meta-analysis of 20 studies with 1864 TA patients confirms strong HLA-B*52 association with Takayasu arteritis.
PMID:26178430 SUPPORT Human Clinical
"HLA-B*52:01 is associated with TAK beyond population. Many of the associations other than HLA-B*52:01 can be explained by a haplotype with HLA-B*52:01."
Review confirms HLA-B*52:01 as the primary susceptibility allele across populations, with IL12B having a central role in onset and progression.
ORPHA:3287 SUPPORT
"HLA-B | major histocompatibility complex, class I, B | hgnc:4932 | Major susceptibility factor in"
Orphanet lists HLA-B as a major susceptibility factor for Takayasu arteritis.

Pathograph

Use the checkboxes to hide or show graph categories. Hover nodes for evidence and cross-linked metadata.
Pathograph: causal mechanism network for Takayasu Arteritis Interactive directed graph showing how pathophysiology mechanisms, phenotypes, genetic factors and variants, experimental models, environmental triggers, and treatments relate through causal and linked edges.

Phenotypes

52
Blood 1
Anemia FREQUENT Anemia HP:0001903
Show evidence (1 reference)
ORPHA:3287 SUPPORT
"HP:0001903 | Anemia | Frequent (79-30%)"
Orphanet classifies anemia as frequent.
Cardiovascular 13
Arteritis VERY_FREQUENT Arteritis HP:0012089
Inflammation of the arterial wall is the defining feature of Takayasu arteritis, primarily affecting the aorta and its major branches.
Show evidence (2 references)
ORPHA:3287 SUPPORT
"HP:0012089 | Arteritis | Very frequent (99-80%)"
Orphanet classifies arteritis as very frequent in Takayasu arteritis.
PMID:33026580 SUPPORT Human Clinical
"Takayasu arteritis (TAK) is a rare granulomatous vasculitis of unknown etiology that mainly affects the aorta and its major branches."
The Italian cohort study confirms arteritis of the aorta and branches as the core feature.
Arterial Stenosis VERY_FREQUENT Arterial stenosis HP:0100545
Show evidence (2 references)
ORPHA:3287 SUPPORT
"HP:0100545 | Arterial stenosis | Very frequent (99-80%)"
Orphanet classifies arterial stenosis as very frequent.
PMID:7909656 SUPPORT Human Clinical
"stenotic lesions were 3.6-fold more common than were aneurysms (98% compared with 27%)."
The NIH cohort found stenotic lesions in 98% of patients.
Vascular Dilatation VERY_FREQUENT Vascular dilatation HP:0002617
Abnormal dilatation of the aorta and major branches, including aneurysm formation. Aneurysms occur in approximately 27% of patients.
Show evidence (2 references)
ORPHA:3287 SUPPORT
"HP:0002617 | Dilatation | Very frequent (99-80%)"
Orphanet classifies vascular dilatation as very frequent.
PMID:7909656 SUPPORT Human Clinical
"Sixty-eight percent of patients had extensive vascular disease; stenotic lesions were 3.6-fold more common than were aneurysms (98% compared with 27%)."
The NIH cohort found aneurysms in 27% of patients.
Vasculitis VERY_FREQUENT Vasculitis HP:0002633
Show evidence (1 reference)
ORPHA:3287 SUPPORT
"HP:0002633 | Vasculitis | Very frequent (99-80%)"
Orphanet classifies vasculitis as very frequent.
Abnormal Heart Valve Morphology VERY_FREQUENT Abnormal heart valve morphology HP:0001654
Show evidence (1 reference)
ORPHA:3287 SUPPORT
"HP:0001654 | Abnormal heart valve morphology | Very frequent (99-80%)"
Orphanet classifies abnormal heart valve morphology as very frequent.
Absent Pulses FREQUENT Absent pulse HP:0032554
Diminished or absent peripheral pulses, particularly in the upper extremities, due to arterial stenosis. Gives rise to the historical name "pulseless disease."
Show evidence (2 references)
ORPHA:3287 SUPPORT
"HP:0032554 | Absent pulse | Frequent (79-30%)"
Orphanet classifies absent pulse as frequent.
PMID:35466620 SUPPORT Human Clinical
"Limb claudication (44.4%), absent pulses (38.9%), were the common initial manifestation."
The Pakistan cohort found absent pulses in 38.9% of patients.
Hypertension FREQUENT Hypertension HP:0000822
Renovascular hypertension due to renal artery stenosis is common and may be the presenting feature.
Show evidence (3 references)
ORPHA:3287 SUPPORT
"HP:0000822 | Hypertension | Frequent (79-30%)"
Orphanet classifies hypertension as frequent.
PMID:7909656 SUPPORT Human Clinical
"Hypertension was most often associated with renal artery stenosis."
NIH cohort confirms hypertension commonly linked to renal artery stenosis.
PMID:35466620 SUPPORT Human Clinical
"Hypertension (61.5%), blood pressure discrepancy between arms (88.9%) and bruit (72.2%) over major vessels were common systemic features."
The Pakistan cohort found hypertension in 61.5% of patients.
Myocardial Infarction FREQUENT Myocardial infarction HP:0001658
Show evidence (1 reference)
ORPHA:3287 SUPPORT
"HP:0001658 | Myocardial infarction | Frequent (79-30%)"
Orphanet classifies myocardial infarction as frequent.
Pulmonary Arterial Hypertension FREQUENT Pulmonary arterial hypertension HP:0002092
Show evidence (1 reference)
ORPHA:3287 SUPPORT
"HP:0002092 | Pulmonary arterial hypertension | Frequent (79-30%)"
Orphanet classifies pulmonary arterial hypertension as frequent.
Aortic Regurgitation OCCASIONAL Aortic regurgitation HP:0001659
Show evidence (1 reference)
ORPHA:3287 SUPPORT
"HP:0001659 | Aortic regurgitation | Occasional (29-5%)"
Orphanet classifies aortic regurgitation as occasional.
Congestive Heart Failure OCCASIONAL Congestive heart failure HP:0001635
Show evidence (1 reference)
ORPHA:3287 SUPPORT
"HP:0001635 | Congestive heart failure | Occasional (29-5%)"
Orphanet classifies congestive heart failure as occasional.
Dilated Cardiomyopathy OCCASIONAL Dilated cardiomyopathy HP:0001644
Show evidence (1 reference)
ORPHA:3287 SUPPORT
"HP:0001644 | Dilated cardiomyopathy | Occasional (29-5%)"
Orphanet classifies dilated cardiomyopathy as occasional.
Stroke OCCASIONAL Stroke HP:0001297
Show evidence (2 references)
ORPHA:3287 SUPPORT
"HP:0001297 | Stroke | Occasional (29-5%)"
Orphanet classifies stroke as occasional.
PMID:7909656 SUPPORT Human Clinical
"The clinical presentation ranged from asymptomatic to catastrophic with stroke."
The NIH cohort identifies stroke as part of the clinical spectrum.
Digestive 1
Anorexia FREQUENT Anorexia HP:0002039
Show evidence (1 reference)
ORPHA:3287 SUPPORT
"HP:0002039 | Anorexia | Frequent (79-30%)"
Orphanet classifies anorexia as frequent.
Ear 1
Vertigo OCCASIONAL Vertigo HP:0002321
Show evidence (1 reference)
ORPHA:3287 SUPPORT
"HP:0002321 | Vertigo | Occasional (29-5%)"
Orphanet classifies vertigo as occasional.
Eye 2
Retinopathy OCCASIONAL Retinopathy HP:0000488
Show evidence (1 reference)
ORPHA:3287 SUPPORT
"HP:0000488 | Retinopathy | Occasional (29-5%)"
Orphanet classifies retinopathy as occasional.
Visual Impairment OCCASIONAL Visual impairment HP:0000505
Show evidence (1 reference)
ORPHA:3287 SUPPORT
"HP:0000505 | Visual impairment | Occasional (29-5%)"
Orphanet classifies visual impairment as occasional.
Immune 1
Erythema Nodosum OCCASIONAL Erythema nodosum HP:0012219
Show evidence (1 reference)
ORPHA:3287 SUPPORT
"HP:0012219 | Erythema nodosum | Occasional (29-5%)"
Orphanet classifies erythema nodosum as occasional.
Integument 1
Skin Ulcer FREQUENT Skin ulcer HP:0200042
Show evidence (1 reference)
ORPHA:3287 SUPPORT
"HP:0200042 | Skin ulcer | Frequent (79-30%)"
Orphanet classifies skin ulcer as frequent.
Metabolism 1
Fever VERY_FREQUENT Fever HP:0001945
Show evidence (1 reference)
ORPHA:3287 SUPPORT
"HP:0001945 | Fever | Very frequent (99-80%)"
Orphanet classifies fever as very frequent.
Musculoskeletal 2
Arthritis FREQUENT Arthritis HP:0001369
Show evidence (1 reference)
ORPHA:3287 SUPPORT
"HP:0001369 | Arthritis | Frequent (79-30%)"
Orphanet classifies arthritis as frequent.
Muscle Weakness FREQUENT Muscle weakness HP:0001324
Show evidence (1 reference)
ORPHA:3287 SUPPORT
"HP:0001324 | Muscle weakness | Frequent (79-30%)"
Orphanet classifies muscle weakness as frequent.
Nervous System 4
Headache FREQUENT Headache HP:0002315
Show evidence (1 reference)
ORPHA:3287 SUPPORT
"HP:0002315 | Headache | Frequent (79-30%)"
Orphanet classifies headache as frequent.
Migraine FREQUENT Migraine HP:0002076
Show evidence (1 reference)
ORPHA:3287 SUPPORT
"HP:0002076 | Migraine | Frequent (79-30%)"
Orphanet classifies migraine as frequent.
Seizure FREQUENT Seizure HP:0001250
Show evidence (1 reference)
ORPHA:3287 SUPPORT
"HP:0001250 | Seizure | Frequent (79-30%)"
Orphanet classifies seizure as frequent.
Abnormal Speech Pattern OCCASIONAL Abnormal speech pattern HP:0002167
Show evidence (1 reference)
ORPHA:3287 SUPPORT
"HP:0002167 | Abnormality of speech or vocalization | Occasional (29-5%)"
Orphanet classifies speech abnormality as occasional.
Respiratory 2
Dyspnea OCCASIONAL Dyspnea HP:0002094
Show evidence (1 reference)
ORPHA:3287 SUPPORT
"HP:0002094 | Dyspnea | Occasional (29-5%)"
Orphanet classifies dyspnea as occasional.
Hemoptysis OCCASIONAL Hemoptysis HP:0002105
Show evidence (1 reference)
ORPHA:3287 SUPPORT
"HP:0002105 | Hemoptysis | Occasional (29-5%)"
Orphanet classifies hemoptysis as occasional.
Constitutional 7
Chest Pain FREQUENT Chest pain HP:0100749
Show evidence (1 reference)
ORPHA:3287 SUPPORT
"HP:0100749 | Chest pain | Frequent (79-30%)"
Orphanet classifies chest pain as frequent.
Gangrene FREQUENT Gangrene HP:0100758
Show evidence (1 reference)
ORPHA:3287 SUPPORT
"HP:0100758 | Gangrene | Frequent (79-30%)"
Orphanet classifies gangrene as frequent.
Fatigue VERY_FREQUENT Fatigue HP:0012378
Show evidence (1 reference)
ORPHA:3287 SUPPORT
"HP:0012378 | Fatigue | Very frequent (99-80%)"
Orphanet classifies fatigue as very frequent.
Malaise OCCASIONAL Malaise HP:0033834
Show evidence (1 reference)
ORPHA:3287 SUPPORT
"HP:0033834 | Malaise | Occasional (29-5%)"
Orphanet classifies malaise as occasional.
Night Sweats OCCASIONAL Night sweats HP:0030166
Show evidence (1 reference)
ORPHA:3287 SUPPORT
"HP:0030166 | Night sweats | Occasional (29-5%)"
Orphanet classifies night sweats as occasional.
Myalgia FREQUENT Myalgia HP:0003326
Show evidence (1 reference)
ORPHA:3287 SUPPORT
"HP:0003326 | Myalgia | Frequent (79-30%)"
Orphanet classifies myalgia as frequent.
Arthralgia OCCASIONAL Arthralgia HP:0002829
Show evidence (1 reference)
ORPHA:3287 SUPPORT
"HP:0002829 | Arthralgia | Occasional (29-5%)"
Orphanet classifies arthralgia as occasional.
Growth 1
Weight Loss VERY_FREQUENT Weight loss HP:0001824
Show evidence (1 reference)
ORPHA:3287 SUPPORT
"HP:0001824 | Weight loss | Very frequent (99-80%)"
Orphanet classifies weight loss as very frequent.
Other 15
Hypertensive Crisis VERY_FREQUENT Hypertensive crisis HP:0100735
Severe hypertension episodes, often related to renal artery stenosis.
Show evidence (1 reference)
ORPHA:3287 SUPPORT
"HP:0100735 | Hypertensive crisis | Very frequent (99-80%)"
Orphanet classifies hypertensive crisis as very frequent.
Abnormal Aortic Valve Morphology FREQUENT Abnormal aortic valve morphology HP:0001646
Show evidence (1 reference)
ORPHA:3287 SUPPORT
"HP:0001646 | Abnormal aortic valve morphology | Frequent (79-30%)"
Orphanet classifies abnormal aortic valve morphology as frequent.
Ascending Aorta Aneurysm FREQUENT Ascending tubular aorta aneurysm HP:0004970
Show evidence (1 reference)
ORPHA:3287 SUPPORT
"HP:0004970 | Ascending tubular aorta aneurysm | Frequent (79-30%)"
Orphanet classifies ascending aortic aneurysm as frequent.
Renal Artery Stenosis FREQUENT Renal artery stenosis HP:0001920
Show evidence (2 references)
ORPHA:3287 SUPPORT
"HP:0001920 | Renal artery stenosis | Frequent (79-30%)"
Orphanet classifies renal artery stenosis as frequent.
PMID:35466620 SUPPORT Human Clinical
"Subclavian artery (72.2%), renal artery (33.3%), iliofemoral arteries (27.8%), and coronary artery involvement (16.7%) were the common lesions."
The Pakistan cohort found renal artery involvement in 33.3% of patients.
Intermittent Claudication FREQUENT Intermittent claudication HP:0004417
Show evidence (2 references)
ORPHA:3287 SUPPORT
"HP:0004417 | Intermittent claudication | Frequent (79-30%)"
Orphanet classifies intermittent claudication as frequent.
PMID:35466620 SUPPORT Human Clinical
"Limb claudication (44.4%), absent pulses (38.9%), were the common initial manifestation."
The Pakistan cohort found limb claudication in 44.4% as the most common initial presentation.
Blood Pressure Higher in Legs Than Arms FREQUENT Blood pressure substantially higher in legs than arms HP:0020141
Show evidence (1 reference)
ORPHA:3287 SUPPORT
"HP:0020141 | Blood pressure substantially higher in legs than arms | Frequent (79-30%)"
Orphanet classifies blood pressure discrepancy as frequent.
Asymmetric Blood Pressure Between Arms FREQUENT Asymmetric blood pressure between arms HP:6000945
Show evidence (2 references)
ORPHA:3287 SUPPORT
"HP:6000945 | Asymmetric blood pressure between arms | Frequent (79-30%)"
Orphanet classifies asymmetric blood pressure between arms as frequent.
PMID:35466620 SUPPORT Human Clinical
"blood pressure discrepancy between arms (88.9%) and bruit (72.2%) over major vessels were common systemic features."
The Pakistan cohort found blood pressure discrepancy between arms in 88.9% of patients.
Carotidynia FREQUENT Carotidynia HP:6000944
Show evidence (1 reference)
ORPHA:3287 SUPPORT
"HP:6000944 | Carotidynia | Frequent (79-30%)"
Orphanet classifies carotidynia as frequent.
Abnormal Endocardium Morphology OCCASIONAL Abnormal endocardium morphology HP:0004306
Show evidence (1 reference)
ORPHA:3287 SUPPORT
"HP:0004306 | Abnormality of the endocardium | Occasional (29-5%)"
Orphanet classifies endocardial abnormality as occasional.
Transient Ischemic Attack OCCASIONAL Transient ischemic attack HP:0002326
Show evidence (1 reference)
ORPHA:3287 SUPPORT
"HP:0002326 | Transient ischemic attack | Occasional (29-5%)"
Orphanet classifies transient ischemic attack as occasional.
Cerebral Ischemia OCCASIONAL Cerebral ischemia HP:0002637
Show evidence (1 reference)
ORPHA:3287 SUPPORT
"HP:0002637 | Cerebral ischemia | Occasional (29-5%)"
Orphanet classifies cerebral ischemia as occasional.
Reduced Consciousness OCCASIONAL Reduced consciousness HP:0004372
Show evidence (1 reference)
ORPHA:3287 SUPPORT
"HP:0004372 | Reduced consciousness/confusion | Occasional (29-5%)"
Orphanet classifies reduced consciousness as occasional.
Amaurosis Fugax OCCASIONAL Amaurosis fugax HP:0100576
Show evidence (1 reference)
ORPHA:3287 SUPPORT
"HP:0100576 | Amaurosis fugax | Occasional (29-5%)"
Orphanet classifies amaurosis fugax as occasional.
Increased Inflammatory Response FREQUENT Increased inflammatory response HP:0012649
Show evidence (1 reference)
ORPHA:3287 SUPPORT
"HP:0012649 | Increased inflammatory response | Frequent (79-30%)"
Orphanet classifies increased inflammatory response as frequent.
Gastrointestinal Infarctions OCCASIONAL Gastrointestinal infarctions HP:0005244
Show evidence (1 reference)
ORPHA:3287 SUPPORT
"HP:0005244 | Gastrointestinal infarctions | Occasional (29-5%)"
Orphanet classifies gastrointestinal infarctions as occasional.
🧬

Genetic Associations

3
HLA-B*52:01 Susceptibility Allele (Major susceptibility factor)
Gene: HLA-B hgnc:4932
Show evidence (2 references)
PMID:27815653 SUPPORT Human Clinical
"The HLA-B*52 allele was found to be associated with TA (pooled OR 3.91, 95 % CI 3.22-4.74, P < 0.0001)."
Meta-analysis demonstrates a highly significant association between HLA-B*52 and TA susceptibility.
ORPHA:3287 SUPPORT
"HLA-B | major histocompatibility complex, class I, B | hgnc:4932 | Major susceptibility factor in"
Orphanet identifies HLA-B as a major susceptibility factor.
IL12B Susceptibility Locus (Major susceptibility factor)
Gene: IL12B hgnc:5970
Show evidence (2 references)
PMID:26178430 SUPPORT Human Clinical
"Recent genome-wide association studies of TAK revealed multiple non-HLA susceptibility genes. In particular, the IL12B region seems to have a central role in TAK onset and its progression."
GWAS review identifies IL12B as a key non-HLA susceptibility locus.
ORPHA:3287 SUPPORT
"IL12B | interleukin 12B | hgnc:5970 | Major susceptibility factor in"
Orphanet lists IL12B as a major susceptibility factor.
MLX Susceptibility Locus (Major susceptibility factor)
Gene: MLX hgnc:11645
Show evidence (1 reference)
ORPHA:3287 SUPPORT
"MLX | MAX dimerization protein MLX | hgnc:11645 | Major susceptibility factor in"
Orphanet lists MLX as a major susceptibility factor for Takayasu arteritis.
💊

Medical Actions

4
Glucocorticoids
Action: glucocorticoid therapy Ontology label: Systemic Corticosteroid Therapy NCIT:C122080
Agent: glucocorticoid CHEBI:24261
First-line treatment for active Takayasu arteritis. High-dose corticosteroids (prednisone 1 mg/kg/day) induce remission in the majority of patients, but relapse is common upon tapering.
Show evidence (2 references)
PMID:29191819 SUPPORT Human Clinical
"Patients with TAK who had relapsed within the previous 12 weeks were induced into remission with oral glucocorticoid therapy."
The TAKT study used glucocorticoids to induce remission in all patients before randomization, confirming their role as standard first-line therapy.
PMID:7909656 SUPPORT Human Clinical
"Medical therapy was required for 80% of patients, whereas 20% had monophasic self-limiting disease. Immunosuppressive treatment with glucocorticoids alone or in combination with a cytotoxic agent failed to induce remission in one fourth of patients; about half of those who achieved remission..."
NIH cohort confirms glucocorticoid use in 80% of patients with significant relapse rate.
Methotrexate
Action: immunosuppressive pharmacotherapy Ontology label: Pharmacotherapy NCIT:C15986
Agent: methotrexate CHEBI:44185
Conventional immunosuppressive agent used as steroid-sparing therapy. Commonly combined with glucocorticoids to maintain remission and reduce steroid dose.
Show evidence (1 reference)
PMID:33026580 SUPPORT Human Clinical
"Medical treatment, based on pathogenetic insights into the roles of humoral and cell-mediated immune mechanisms, included glucocorticoids mostly combined with steroid-sparing immunosuppressive agents and, in patients with relapsing/refractory disease, biologic drugs."
Confirms standard use of steroid-sparing immunosuppressive agents including methotrexate alongside glucocorticoids.
Tocilizumab
Action: tocilizumab therapy Ontology label: Pharmacotherapy NCIT:C15986
Anti-IL-6 receptor monoclonal antibody used as steroid-sparing agent. In the TAKT phase 3 trial, tocilizumab showed a trend toward reduced relapse risk compared to placebo.
Mechanism Target:
INHIBITS Granulomatous Vascular Inflammation
Show evidence (1 reference)
PMID:29191819 PARTIAL Human Clinical
"Although the primary endpoint was not met, the results suggest favour for tocilizumab over placebo for time to relapse of TAK without new safety concerns. Further investigation is warranted to confirm the efficacy of tocilizumab in patients with refractory TAK."
The TAKT trial showed a trend favoring tocilizumab but did not meet its primary endpoint, providing partial support for efficacy.
Vascular Surgery
Action: surgical procedure MAXO:0000004
Surgical revascularization or angioplasty for critical stenoses or aneurysms when disease is in remission. Bypass grafting is preferred over endovascular procedures due to lower restenosis rates.
Show evidence (1 reference)
PMID:7909656 SUPPORT Human Clinical
"Although clinically significant palliation usually occurred after angioplasty or bypass of severely stenotic vessels, restenosis was common."
NIH cohort confirms that surgical revascularization provides palliation but restenosis is a significant problem.
🔬

Biochemical Markers

2
Erythrocyte Sedimentation Rate (ESR) (Elevated)
Context: Elevated ESR is common during active disease, though normal ESR does not exclude active inflammation.
Show evidence (2 references)
ORPHA:3287 SUPPORT
"HP:0003565 | Elevated erythrocyte sedimentation rate | Frequent (79-30%)"
Orphanet classifies elevated ESR as frequent in TAK.
PMID:7909656 PARTIAL Human Clinical
"The erythrocyte sedimentation rate was not a consistently reliable surrogate marker of disease activity."
The NIH cohort found ESR elevated but unreliable as a sole disease activity marker.
C-Reactive Protein (CRP) (Elevated)
Context: CRP is elevated during active inflammation but may not correlate perfectly with disease activity.
Show evidence (1 reference)
ORPHA:3287 SUPPORT
"HP:0011227 | Elevated circulating C-reactive protein concentration | Occasional (29-5%)"
Orphanet classifies elevated CRP as occasional.
{ }

Source YAML

click to show
name: Takayasu Arteritis
creation_date: "2026-03-06T00:00:00Z"
updated_date: "2026-05-01T00:00:00Z"
category: Autoimmune
disease_term:
  preferred_term: Takayasu arteritis
  term:
    id: MONDO:0017991
    label: Takayasu arteritis
parents:
- Vasculitis
- Autoimmune Disease
description: >-
  A rare chronic granulomatous large-vessel vasculitis primarily affecting the
  aorta and its major branches. Predominantly affects young women, with highest
  incidence in East Asia. The disease causes segmental stenosis, occlusion,
  dilatation, and aneurysm formation of affected arteries, leading to limb
  claudication, absent pulses, hypertension, and potentially life-threatening
  ischemic complications.
pathophysiology:
- name: Granulomatous Vascular Inflammation
  description: >-
    T-cell and macrophage-mediated granulomatous inflammation targets the
    adventitia and media of the aorta and major branches. CD4+ and CD8+ T cells,
    Th17 cells, and dendritic cells infiltrate the vessel wall, along with
    macrophages and multinucleated giant cells. Dendritic cells with upregulated
    TLR signaling release IL-12 and IL-23, recruiting vasculitogenic T cells.
    Th1/Th17 subsets contribute via IFN-gamma/IL-17/IL-6 pathways. This
    inflammatory infiltrate leads to intimal hyperplasia, medial destruction,
    and adventitial fibrosis. IL-6 plays a key role in driving the inflammatory
    cascade.
  cell_types:
  - preferred_term: CD4+ T cell
    term:
      id: CL:0000624
      label: CD4-positive, alpha-beta T cell
  - preferred_term: CD8+ T cell
    term:
      id: CL:0000625
      label: CD8-positive, alpha-beta T cell
  - preferred_term: T-helper 17 cell
    term:
      id: CL:0000899
      label: T-helper 17 cell
  - preferred_term: Dendritic cell
    term:
      id: CL:0000451
      label: dendritic cell
  - preferred_term: Macrophage
    term:
      id: CL:0000235
      label: macrophage
  - preferred_term: Multinucleated giant cell
    term:
      id: CL:0000647
      label: multinucleated giant cell
  - preferred_term: Vascular smooth muscle cell
    term:
      id: CL:0000192
      label: smooth muscle cell
  biological_processes:
  - preferred_term: Inflammatory response
    term:
      id: GO:0006954
      label: inflammatory response
  - preferred_term: T cell mediated immunity
    term:
      id: GO:0002456
      label: T cell mediated immunity
  - preferred_term: Macrophage activation
    term:
      id: GO:0042116
      label: macrophage activation
  downstream:
  - target: Vascular Remodeling and Stenosis
  evidence:
  - reference: PMID:29191819
    reference_title: "Efficacy and safety of tocilizumab in patients with refractory Takayasu arteritis: results from a randomised, double-blind, placebo-controlled, phase 3 trial in Japan (the TAKT study)."
    supports: PARTIAL
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      To investigate the efficacy and safety of the interleukin-6 receptor
      antibody tocilizumab in patients with Takayasu arteritis (TAK).
    explanation: >-
      The TAKT study targets IL-6 receptor signaling, confirming the
      central role of IL-6 in TAK pathogenesis.
  - reference: PMID:33026580
    reference_title: "Takayasu arteritis: a cohort of Italian patients and recent pathogenetic and therapeutic advances."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Medical treatment, based on pathogenetic insights into the roles of
      humoral and cell-mediated immune mechanisms, included glucocorticoids
      mostly combined with steroid-sparing immunosuppressive agents and, in
      patients with relapsing/refractory disease, biologic drugs.
    explanation: >-
      The Italian cohort study confirms the role of both humoral and
      cell-mediated immune mechanisms in TAK pathogenesis.
- name: Vascular Remodeling and Stenosis
  description: >-
    Chronic inflammation of the arterial wall leads to intimal hyperplasia,
    medial smooth muscle cell destruction, and adventitial fibrosis. These
    structural changes result in segmental stenosis, occlusion, dilatation,
    and aneurysm formation. Stenotic lesions are far more common than
    aneurysms.
  biological_processes:
  - preferred_term: Extracellular matrix organization
    term:
      id: GO:0030198
      label: extracellular matrix organization
  evidence:
  - reference: PMID:7909656
    reference_title: "Takayasu arteritis."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Sixty-eight percent of patients had extensive vascular disease;
      stenotic lesions were 3.6-fold more common than were aneurysms (98%
      compared with 27%).
    explanation: >-
      The NIH cohort demonstrates that stenotic lesions predominate over
      aneurysmal disease, confirming the vascular remodeling pattern.
- name: HLA-B*52 Genetic Susceptibility
  description: >-
    The HLA-B*52:01 allele is the strongest genetic susceptibility factor for
    Takayasu arteritis across multiple populations. IL12B and MLX loci also
    contribute to disease susceptibility. HLA-B*52:01 is associated not only
    with disease susceptibility but also with clinical phenotype severity.
  biological_processes:
  - preferred_term: Immune response
    term:
      id: GO:0006955
      label: immune response
  downstream:
  - target: Granulomatous Vascular Inflammation
  evidence:
  - reference: PMID:27815653
    reference_title: "Relationship of HLA-B*51 and HLA-B*52 alleles and TNF-α-308A/G polymorphism with susceptibility to Takayasu arteritis: a meta-analysis."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      The HLA-B*52 allele was found to be associated with TA (pooled OR
      3.91, 95 % CI 3.22-4.74, P < 0.0001).
    explanation: >-
      Meta-analysis of 20 studies with 1864 TA patients confirms strong
      HLA-B*52 association with Takayasu arteritis.
  - reference: PMID:26178430
    reference_title: "Revisited HLA and non-HLA genetics of Takayasu arteritis--where are we?"
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      HLA-B*52:01 is associated with TAK beyond population. Many of the
      associations other than HLA-B*52:01 can be explained by a haplotype
      with HLA-B*52:01.
    explanation: >-
      Review confirms HLA-B*52:01 as the primary susceptibility allele across
      populations, with IL12B having a central role in onset and progression.
  - reference: ORPHA:3287
    reference_title: "Takayasu arteritis"
    supports: SUPPORT
    snippet: "HLA-B | major histocompatibility complex, class I, B | hgnc:4932 | Major susceptibility factor in"
    explanation: >-
      Orphanet lists HLA-B as a major susceptibility factor for Takayasu arteritis.
genetic:
- name: HLA-B*52:01 Susceptibility Allele
  association: Major susceptibility factor
  gene_term:
    preferred_term: HLA-B
    term:
      id: hgnc:4932
      label: HLA-B
  notes: >-
    The HLA-B*52:01 allele confers approximately 4-fold increased risk for
    Takayasu arteritis. This association has been confirmed across Japanese,
    Korean, Indian, Turkish, and other populations.
  evidence:
  - reference: PMID:27815653
    reference_title: "Relationship of HLA-B*51 and HLA-B*52 alleles and TNF-α-308A/G polymorphism with susceptibility to Takayasu arteritis: a meta-analysis."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      The HLA-B*52 allele was found to be associated with TA (pooled OR
      3.91, 95 % CI 3.22-4.74, P < 0.0001).
    explanation: >-
      Meta-analysis demonstrates a highly significant association between
      HLA-B*52 and TA susceptibility.
  - reference: ORPHA:3287
    reference_title: "Takayasu arteritis"
    supports: SUPPORT
    snippet: "HLA-B | major histocompatibility complex, class I, B | hgnc:4932 | Major susceptibility factor in"
    explanation: >-
      Orphanet identifies HLA-B as a major susceptibility factor.
- name: IL12B Susceptibility Locus
  association: Major susceptibility factor
  gene_term:
    preferred_term: IL12B
    term:
      id: hgnc:5970
      label: IL12B
  notes: >-
    The IL12B locus, encoding interleukin-12B, is a non-HLA susceptibility
    gene for Takayasu arteritis identified by genome-wide association studies.
    IL12B may have a central role in disease onset and progression.
  evidence:
  - reference: PMID:26178430
    reference_title: "Revisited HLA and non-HLA genetics of Takayasu arteritis--where are we?"
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Recent genome-wide association studies of TAK revealed multiple non-HLA
      susceptibility genes. In particular, the IL12B region seems to have a
      central role in TAK onset and its progression.
    explanation: >-
      GWAS review identifies IL12B as a key non-HLA susceptibility locus.
  - reference: ORPHA:3287
    reference_title: "Takayasu arteritis"
    supports: SUPPORT
    snippet: "IL12B | interleukin 12B | hgnc:5970 | Major susceptibility factor in"
    explanation: >-
      Orphanet lists IL12B as a major susceptibility factor.
- name: MLX Susceptibility Locus
  association: Major susceptibility factor
  gene_term:
    preferred_term: MLX
    term:
      id: hgnc:11645
      label: MLX
  notes: >-
    The MLX locus (MAX dimerization protein MLX) has been identified as a
    susceptibility factor for Takayasu arteritis.
  evidence:
  - reference: ORPHA:3287
    reference_title: "Takayasu arteritis"
    supports: SUPPORT
    snippet: "MLX | MAX dimerization protein MLX | hgnc:11645 | Major susceptibility factor in"
    explanation: >-
      Orphanet lists MLX as a major susceptibility factor for Takayasu arteritis.
phenotypes:
- category: Cardiovascular
  name: Arteritis
  frequency: VERY_FREQUENT
  diagnostic: true
  notes: >-
    Inflammation of the arterial wall is the defining feature of Takayasu
    arteritis, primarily affecting the aorta and its major branches.
  phenotype_term:
    preferred_term: Arteritis
    term:
      id: HP:0012089
      label: Arteritis
  evidence:
  - reference: ORPHA:3287
    reference_title: "Takayasu arteritis"
    supports: SUPPORT
    snippet: "HP:0012089 | Arteritis | Very frequent (99-80%)"
    explanation: >-
      Orphanet classifies arteritis as very frequent in Takayasu arteritis.
  - reference: PMID:33026580
    reference_title: "Takayasu arteritis: a cohort of Italian patients and recent pathogenetic and therapeutic advances."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Takayasu arteritis (TAK) is a rare granulomatous vasculitis of unknown
      etiology that mainly affects the aorta and its major branches.
    explanation: >-
      The Italian cohort study confirms arteritis of the aorta and branches
      as the core feature.
- category: Cardiovascular
  name: Arterial Stenosis
  frequency: VERY_FREQUENT
  diagnostic: true
  phenotype_term:
    preferred_term: Arterial stenosis
    term:
      id: HP:0100545
      label: Arterial stenosis
  evidence:
  - reference: ORPHA:3287
    reference_title: "Takayasu arteritis"
    supports: SUPPORT
    snippet: "HP:0100545 | Arterial stenosis | Very frequent (99-80%)"
    explanation: >-
      Orphanet classifies arterial stenosis as very frequent.
  - reference: PMID:7909656
    reference_title: "Takayasu arteritis."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      stenotic lesions were 3.6-fold more common than were aneurysms (98%
      compared with 27%).
    explanation: >-
      The NIH cohort found stenotic lesions in 98% of patients.
- category: Cardiovascular
  name: Vascular Dilatation
  frequency: VERY_FREQUENT
  notes: >-
    Abnormal dilatation of the aorta and major branches, including aneurysm
    formation. Aneurysms occur in approximately 27% of patients.
  phenotype_term:
    preferred_term: Vascular dilatation
    term:
      id: HP:0002617
      label: Vascular dilatation
  evidence:
  - reference: ORPHA:3287
    reference_title: "Takayasu arteritis"
    supports: SUPPORT
    snippet: "HP:0002617 | Dilatation | Very frequent (99-80%)"
    explanation: >-
      Orphanet classifies vascular dilatation as very frequent.
  - reference: PMID:7909656
    reference_title: "Takayasu arteritis."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Sixty-eight percent of patients had extensive vascular disease;
      stenotic lesions were 3.6-fold more common than were aneurysms (98%
      compared with 27%).
    explanation: >-
      The NIH cohort found aneurysms in 27% of patients.
- category: Cardiovascular
  name: Vasculitis
  frequency: VERY_FREQUENT
  phenotype_term:
    preferred_term: Vasculitis
    term:
      id: HP:0002633
      label: Vasculitis
  evidence:
  - reference: ORPHA:3287
    reference_title: "Takayasu arteritis"
    supports: SUPPORT
    snippet: "HP:0002633 | Vasculitis | Very frequent (99-80%)"
    explanation: >-
      Orphanet classifies vasculitis as very frequent.
- category: Cardiovascular
  name: Hypertensive Crisis
  frequency: VERY_FREQUENT
  notes: >-
    Severe hypertension episodes, often related to renal artery stenosis.
  phenotype_term:
    preferred_term: Hypertensive crisis
    term:
      id: HP:0100735
      label: Hypertensive crisis
  evidence:
  - reference: ORPHA:3287
    reference_title: "Takayasu arteritis"
    supports: SUPPORT
    snippet: "HP:0100735 | Hypertensive crisis | Very frequent (99-80%)"
    explanation: >-
      Orphanet classifies hypertensive crisis as very frequent.
- category: Cardiovascular
  name: Abnormal Heart Valve Morphology
  frequency: VERY_FREQUENT
  phenotype_term:
    preferred_term: Abnormal heart valve morphology
    term:
      id: HP:0001654
      label: Abnormal heart valve morphology
  evidence:
  - reference: ORPHA:3287
    reference_title: "Takayasu arteritis"
    supports: SUPPORT
    snippet: "HP:0001654 | Abnormal heart valve morphology | Very frequent (99-80%)"
    explanation: >-
      Orphanet classifies abnormal heart valve morphology as very frequent.
- category: Cardiovascular
  name: Absent Pulses
  frequency: FREQUENT
  diagnostic: true
  notes: >-
    Diminished or absent peripheral pulses, particularly in the upper
    extremities, due to arterial stenosis. Gives rise to the historical
    name "pulseless disease."
  phenotype_term:
    preferred_term: Absent pulse
    term:
      id: HP:0032554
      label: Absent pulse
  evidence:
  - reference: ORPHA:3287
    reference_title: "Takayasu arteritis"
    supports: SUPPORT
    snippet: "HP:0032554 | Absent pulse | Frequent (79-30%)"
    explanation: >-
      Orphanet classifies absent pulse as frequent.
  - reference: PMID:35466620
    reference_title: "Takayasu Arteritis: Pattern Of Clinical And Radiological Features, Experience From Pakistan."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Limb claudication (44.4%), absent pulses (38.9%), were the common
      initial manifestation.
    explanation: >-
      The Pakistan cohort found absent pulses in 38.9% of patients.
- category: Cardiovascular
  name: Hypertension
  frequency: FREQUENT
  notes: >-
    Renovascular hypertension due to renal artery stenosis is common and
    may be the presenting feature.
  phenotype_term:
    preferred_term: Hypertension
    term:
      id: HP:0000822
      label: Hypertension
  evidence:
  - reference: ORPHA:3287
    reference_title: "Takayasu arteritis"
    supports: SUPPORT
    snippet: "HP:0000822 | Hypertension | Frequent (79-30%)"
    explanation: >-
      Orphanet classifies hypertension as frequent.
  - reference: PMID:7909656
    reference_title: "Takayasu arteritis."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Hypertension was most often associated with renal artery stenosis.
    explanation: >-
      NIH cohort confirms hypertension commonly linked to renal artery stenosis.
  - reference: PMID:35466620
    reference_title: "Takayasu Arteritis: Pattern Of Clinical And Radiological Features, Experience From Pakistan."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Hypertension (61.5%), blood pressure discrepancy between arms (88.9%)
      and bruit (72.2%) over major vessels were common systemic features.
    explanation: >-
      The Pakistan cohort found hypertension in 61.5% of patients.
- category: Cardiovascular
  name: Abnormal Aortic Valve Morphology
  frequency: FREQUENT
  phenotype_term:
    preferred_term: Abnormal aortic valve morphology
    term:
      id: HP:0001646
      label: Abnormal aortic valve morphology
  evidence:
  - reference: ORPHA:3287
    reference_title: "Takayasu arteritis"
    supports: SUPPORT
    snippet: "HP:0001646 | Abnormal aortic valve morphology | Frequent (79-30%)"
    explanation: >-
      Orphanet classifies abnormal aortic valve morphology as frequent.
- category: Cardiovascular
  name: Myocardial Infarction
  frequency: FREQUENT
  phenotype_term:
    preferred_term: Myocardial infarction
    term:
      id: HP:0001658
      label: Myocardial infarction
  evidence:
  - reference: ORPHA:3287
    reference_title: "Takayasu arteritis"
    supports: SUPPORT
    snippet: "HP:0001658 | Myocardial infarction | Frequent (79-30%)"
    explanation: >-
      Orphanet classifies myocardial infarction as frequent.
- category: Cardiovascular
  name: Ascending Aorta Aneurysm
  frequency: FREQUENT
  phenotype_term:
    preferred_term: Ascending aortic aneurysm
    term:
      id: HP:0004970
      label: Ascending tubular aorta aneurysm
  evidence:
  - reference: ORPHA:3287
    reference_title: "Takayasu arteritis"
    supports: SUPPORT
    snippet: "HP:0004970 | Ascending tubular aorta aneurysm | Frequent (79-30%)"
    explanation: >-
      Orphanet classifies ascending aortic aneurysm as frequent.
- category: Cardiovascular
  name: Renal Artery Stenosis
  frequency: FREQUENT
  phenotype_term:
    preferred_term: Renal artery stenosis
    term:
      id: HP:0001920
      label: Renal artery stenosis
  evidence:
  - reference: ORPHA:3287
    reference_title: "Takayasu arteritis"
    supports: SUPPORT
    snippet: "HP:0001920 | Renal artery stenosis | Frequent (79-30%)"
    explanation: >-
      Orphanet classifies renal artery stenosis as frequent.
  - reference: PMID:35466620
    reference_title: "Takayasu Arteritis: Pattern Of Clinical And Radiological Features, Experience From Pakistan."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Subclavian artery (72.2%), renal artery (33.3%), iliofemoral arteries
      (27.8%), and coronary artery involvement (16.7%) were the common lesions.
    explanation: >-
      The Pakistan cohort found renal artery involvement in 33.3% of patients.
- category: Cardiovascular
  name: Intermittent Claudication
  frequency: FREQUENT
  phenotype_term:
    preferred_term: Intermittent claudication
    term:
      id: HP:0004417
      label: Intermittent claudication
  evidence:
  - reference: ORPHA:3287
    reference_title: "Takayasu arteritis"
    supports: SUPPORT
    snippet: "HP:0004417 | Intermittent claudication | Frequent (79-30%)"
    explanation: >-
      Orphanet classifies intermittent claudication as frequent.
  - reference: PMID:35466620
    reference_title: "Takayasu Arteritis: Pattern Of Clinical And Radiological Features, Experience From Pakistan."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Limb claudication (44.4%), absent pulses (38.9%), were the common
      initial manifestation.
    explanation: >-
      The Pakistan cohort found limb claudication in 44.4% as the most common
      initial presentation.
- category: Cardiovascular
  name: Pulmonary Arterial Hypertension
  frequency: FREQUENT
  phenotype_term:
    preferred_term: Pulmonary arterial hypertension
    term:
      id: HP:0002092
      label: Pulmonary arterial hypertension
  evidence:
  - reference: ORPHA:3287
    reference_title: "Takayasu arteritis"
    supports: SUPPORT
    snippet: "HP:0002092 | Pulmonary arterial hypertension | Frequent (79-30%)"
    explanation: >-
      Orphanet classifies pulmonary arterial hypertension as frequent.
- category: Cardiovascular
  name: Blood Pressure Higher in Legs Than Arms
  frequency: FREQUENT
  phenotype_term:
    preferred_term: Blood pressure substantially higher in legs than arms
    term:
      id: HP:0020141
      label: Blood pressure substantially higher in legs than arms
  evidence:
  - reference: ORPHA:3287
    reference_title: "Takayasu arteritis"
    supports: SUPPORT
    snippet: "HP:0020141 | Blood pressure substantially higher in legs than arms | Frequent (79-30%)"
    explanation: >-
      Orphanet classifies blood pressure discrepancy as frequent.
- category: Cardiovascular
  name: Asymmetric Blood Pressure Between Arms
  frequency: FREQUENT
  diagnostic: true
  phenotype_term:
    preferred_term: Asymmetric blood pressure between arms
    term:
      id: HP:6000945
      label: Asymmetric blood pressure between arms
  evidence:
  - reference: ORPHA:3287
    reference_title: "Takayasu arteritis"
    supports: SUPPORT
    snippet: "HP:6000945 | Asymmetric blood pressure between arms | Frequent (79-30%)"
    explanation: >-
      Orphanet classifies asymmetric blood pressure between arms as frequent.
  - reference: PMID:35466620
    reference_title: "Takayasu Arteritis: Pattern Of Clinical And Radiological Features, Experience From Pakistan."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      blood pressure discrepancy between arms (88.9%) and bruit (72.2%)
      over major vessels were common systemic features.
    explanation: >-
      The Pakistan cohort found blood pressure discrepancy between arms in
      88.9% of patients.
- category: Cardiovascular
  name: Chest Pain
  frequency: FREQUENT
  phenotype_term:
    preferred_term: Chest pain
    term:
      id: HP:0100749
      label: Chest pain
  evidence:
  - reference: ORPHA:3287
    reference_title: "Takayasu arteritis"
    supports: SUPPORT
    snippet: "HP:0100749 | Chest pain | Frequent (79-30%)"
    explanation: >-
      Orphanet classifies chest pain as frequent.
- category: Cardiovascular
  name: Gangrene
  frequency: FREQUENT
  phenotype_term:
    preferred_term: Gangrene
    term:
      id: HP:0100758
      label: Gangrene
  evidence:
  - reference: ORPHA:3287
    reference_title: "Takayasu arteritis"
    supports: SUPPORT
    snippet: "HP:0100758 | Gangrene | Frequent (79-30%)"
    explanation: >-
      Orphanet classifies gangrene as frequent.
- category: Cardiovascular
  name: Carotidynia
  frequency: FREQUENT
  phenotype_term:
    preferred_term: Carotidynia
    term:
      id: HP:6000944
      label: Carotidynia
  evidence:
  - reference: ORPHA:3287
    reference_title: "Takayasu arteritis"
    supports: SUPPORT
    snippet: "HP:6000944 | Carotidynia | Frequent (79-30%)"
    explanation: >-
      Orphanet classifies carotidynia as frequent.
- category: Cardiovascular
  name: Aortic Regurgitation
  frequency: OCCASIONAL
  phenotype_term:
    preferred_term: Aortic regurgitation
    term:
      id: HP:0001659
      label: Aortic regurgitation
  evidence:
  - reference: ORPHA:3287
    reference_title: "Takayasu arteritis"
    supports: SUPPORT
    snippet: "HP:0001659 | Aortic regurgitation | Occasional (29-5%)"
    explanation: >-
      Orphanet classifies aortic regurgitation as occasional.
- category: Cardiovascular
  name: Congestive Heart Failure
  frequency: OCCASIONAL
  phenotype_term:
    preferred_term: Congestive heart failure
    term:
      id: HP:0001635
      label: Congestive heart failure
  evidence:
  - reference: ORPHA:3287
    reference_title: "Takayasu arteritis"
    supports: SUPPORT
    snippet: "HP:0001635 | Congestive heart failure | Occasional (29-5%)"
    explanation: >-
      Orphanet classifies congestive heart failure as occasional.
- category: Cardiovascular
  name: Dilated Cardiomyopathy
  frequency: OCCASIONAL
  phenotype_term:
    preferred_term: Dilated cardiomyopathy
    term:
      id: HP:0001644
      label: Dilated cardiomyopathy
  evidence:
  - reference: ORPHA:3287
    reference_title: "Takayasu arteritis"
    supports: SUPPORT
    snippet: "HP:0001644 | Dilated cardiomyopathy | Occasional (29-5%)"
    explanation: >-
      Orphanet classifies dilated cardiomyopathy as occasional.
- category: Cardiovascular
  name: Abnormal Endocardium Morphology
  frequency: OCCASIONAL
  phenotype_term:
    preferred_term: Abnormal endocardium morphology
    term:
      id: HP:0004306
      label: Abnormal endocardium morphology
  evidence:
  - reference: ORPHA:3287
    reference_title: "Takayasu arteritis"
    supports: SUPPORT
    snippet: "HP:0004306 | Abnormality of the endocardium | Occasional (29-5%)"
    explanation: >-
      Orphanet classifies endocardial abnormality as occasional.
- category: Constitutional
  name: Fatigue
  frequency: VERY_FREQUENT
  phenotype_term:
    preferred_term: Fatigue
    term:
      id: HP:0012378
      label: Fatigue
  evidence:
  - reference: ORPHA:3287
    reference_title: "Takayasu arteritis"
    supports: SUPPORT
    snippet: "HP:0012378 | Fatigue | Very frequent (99-80%)"
    explanation: >-
      Orphanet classifies fatigue as very frequent.
- category: Constitutional
  name: Fever
  frequency: VERY_FREQUENT
  phenotype_term:
    preferred_term: Fever
    term:
      id: HP:0001945
      label: Fever
  evidence:
  - reference: ORPHA:3287
    reference_title: "Takayasu arteritis"
    supports: SUPPORT
    snippet: "HP:0001945 | Fever | Very frequent (99-80%)"
    explanation: >-
      Orphanet classifies fever as very frequent.
- category: Constitutional
  name: Weight Loss
  frequency: VERY_FREQUENT
  phenotype_term:
    preferred_term: Weight loss
    term:
      id: HP:0001824
      label: Weight loss
  evidence:
  - reference: ORPHA:3287
    reference_title: "Takayasu arteritis"
    supports: SUPPORT
    snippet: "HP:0001824 | Weight loss | Very frequent (99-80%)"
    explanation: >-
      Orphanet classifies weight loss as very frequent.
- category: Constitutional
  name: Anorexia
  frequency: FREQUENT
  phenotype_term:
    preferred_term: Anorexia
    term:
      id: HP:0002039
      label: Anorexia
  evidence:
  - reference: ORPHA:3287
    reference_title: "Takayasu arteritis"
    supports: SUPPORT
    snippet: "HP:0002039 | Anorexia | Frequent (79-30%)"
    explanation: >-
      Orphanet classifies anorexia as frequent.
- category: Constitutional
  name: Malaise
  frequency: OCCASIONAL
  phenotype_term:
    preferred_term: Malaise
    term:
      id: HP:0033834
      label: Malaise
  evidence:
  - reference: ORPHA:3287
    reference_title: "Takayasu arteritis"
    supports: SUPPORT
    snippet: "HP:0033834 | Malaise | Occasional (29-5%)"
    explanation: >-
      Orphanet classifies malaise as occasional.
- category: Constitutional
  name: Night Sweats
  frequency: OCCASIONAL
  phenotype_term:
    preferred_term: Night sweats
    term:
      id: HP:0030166
      label: Night sweats
  evidence:
  - reference: ORPHA:3287
    reference_title: "Takayasu arteritis"
    supports: SUPPORT
    snippet: "HP:0030166 | Night sweats | Occasional (29-5%)"
    explanation: >-
      Orphanet classifies night sweats as occasional.
- category: Neurological
  name: Headache
  frequency: FREQUENT
  phenotype_term:
    preferred_term: Headache
    term:
      id: HP:0002315
      label: Headache
  evidence:
  - reference: ORPHA:3287
    reference_title: "Takayasu arteritis"
    supports: SUPPORT
    snippet: "HP:0002315 | Headache | Frequent (79-30%)"
    explanation: >-
      Orphanet classifies headache as frequent.
- category: Neurological
  name: Migraine
  frequency: FREQUENT
  phenotype_term:
    preferred_term: Migraine
    term:
      id: HP:0002076
      label: Migraine
  evidence:
  - reference: ORPHA:3287
    reference_title: "Takayasu arteritis"
    supports: SUPPORT
    snippet: "HP:0002076 | Migraine | Frequent (79-30%)"
    explanation: >-
      Orphanet classifies migraine as frequent.
- category: Neurological
  name: Seizure
  frequency: FREQUENT
  phenotype_term:
    preferred_term: Seizure
    term:
      id: HP:0001250
      label: Seizure
  evidence:
  - reference: ORPHA:3287
    reference_title: "Takayasu arteritis"
    supports: SUPPORT
    snippet: "HP:0001250 | Seizure | Frequent (79-30%)"
    explanation: >-
      Orphanet classifies seizure as frequent.
- category: Neurological
  name: Vertigo
  frequency: OCCASIONAL
  phenotype_term:
    preferred_term: Vertigo
    term:
      id: HP:0002321
      label: Vertigo
  evidence:
  - reference: ORPHA:3287
    reference_title: "Takayasu arteritis"
    supports: SUPPORT
    snippet: "HP:0002321 | Vertigo | Occasional (29-5%)"
    explanation: >-
      Orphanet classifies vertigo as occasional.
- category: Neurological
  name: Stroke
  frequency: OCCASIONAL
  phenotype_term:
    preferred_term: Stroke
    term:
      id: HP:0001297
      label: Stroke
  evidence:
  - reference: ORPHA:3287
    reference_title: "Takayasu arteritis"
    supports: SUPPORT
    snippet: "HP:0001297 | Stroke | Occasional (29-5%)"
    explanation: >-
      Orphanet classifies stroke as occasional.
  - reference: PMID:7909656
    reference_title: "Takayasu arteritis."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      The clinical presentation ranged from asymptomatic to catastrophic
      with stroke.
    explanation: >-
      The NIH cohort identifies stroke as part of the clinical spectrum.
- category: Neurological
  name: Transient Ischemic Attack
  frequency: OCCASIONAL
  phenotype_term:
    preferred_term: Transient ischemic attack
    term:
      id: HP:0002326
      label: Transient ischemic attack
  evidence:
  - reference: ORPHA:3287
    reference_title: "Takayasu arteritis"
    supports: SUPPORT
    snippet: "HP:0002326 | Transient ischemic attack | Occasional (29-5%)"
    explanation: >-
      Orphanet classifies transient ischemic attack as occasional.
- category: Neurological
  name: Cerebral Ischemia
  frequency: OCCASIONAL
  phenotype_term:
    preferred_term: Cerebral ischemia
    term:
      id: HP:0002637
      label: Cerebral ischemia
  evidence:
  - reference: ORPHA:3287
    reference_title: "Takayasu arteritis"
    supports: SUPPORT
    snippet: "HP:0002637 | Cerebral ischemia | Occasional (29-5%)"
    explanation: >-
      Orphanet classifies cerebral ischemia as occasional.
- category: Neurological
  name: Reduced Consciousness
  frequency: OCCASIONAL
  phenotype_term:
    preferred_term: Reduced consciousness
    term:
      id: HP:0004372
      label: Reduced consciousness
  evidence:
  - reference: ORPHA:3287
    reference_title: "Takayasu arteritis"
    supports: SUPPORT
    snippet: "HP:0004372 | Reduced consciousness/confusion | Occasional (29-5%)"
    explanation: >-
      Orphanet classifies reduced consciousness as occasional.
- category: Neurological
  name: Abnormal Speech Pattern
  frequency: OCCASIONAL
  phenotype_term:
    preferred_term: Abnormal speech pattern
    term:
      id: HP:0002167
      label: Abnormal speech pattern
  evidence:
  - reference: ORPHA:3287
    reference_title: "Takayasu arteritis"
    supports: SUPPORT
    snippet: "HP:0002167 | Abnormality of speech or vocalization | Occasional (29-5%)"
    explanation: >-
      Orphanet classifies speech abnormality as occasional.
- category: Musculoskeletal
  name: Arthritis
  frequency: FREQUENT
  phenotype_term:
    preferred_term: Arthritis
    term:
      id: HP:0001369
      label: Arthritis
  evidence:
  - reference: ORPHA:3287
    reference_title: "Takayasu arteritis"
    supports: SUPPORT
    snippet: "HP:0001369 | Arthritis | Frequent (79-30%)"
    explanation: >-
      Orphanet classifies arthritis as frequent.
- category: Musculoskeletal
  name: Myalgia
  frequency: FREQUENT
  phenotype_term:
    preferred_term: Myalgia
    term:
      id: HP:0003326
      label: Myalgia
  evidence:
  - reference: ORPHA:3287
    reference_title: "Takayasu arteritis"
    supports: SUPPORT
    snippet: "HP:0003326 | Myalgia | Frequent (79-30%)"
    explanation: >-
      Orphanet classifies myalgia as frequent.
- category: Musculoskeletal
  name: Muscle Weakness
  frequency: FREQUENT
  phenotype_term:
    preferred_term: Muscle weakness
    term:
      id: HP:0001324
      label: Muscle weakness
  evidence:
  - reference: ORPHA:3287
    reference_title: "Takayasu arteritis"
    supports: SUPPORT
    snippet: "HP:0001324 | Muscle weakness | Frequent (79-30%)"
    explanation: >-
      Orphanet classifies muscle weakness as frequent.
- category: Musculoskeletal
  name: Arthralgia
  frequency: OCCASIONAL
  phenotype_term:
    preferred_term: Arthralgia
    term:
      id: HP:0002829
      label: Arthralgia
  evidence:
  - reference: ORPHA:3287
    reference_title: "Takayasu arteritis"
    supports: SUPPORT
    snippet: "HP:0002829 | Arthralgia | Occasional (29-5%)"
    explanation: >-
      Orphanet classifies arthralgia as occasional.
- category: Ophthalmologic
  name: Retinopathy
  frequency: OCCASIONAL
  phenotype_term:
    preferred_term: Retinopathy
    term:
      id: HP:0000488
      label: Retinopathy
  evidence:
  - reference: ORPHA:3287
    reference_title: "Takayasu arteritis"
    supports: SUPPORT
    snippet: "HP:0000488 | Retinopathy | Occasional (29-5%)"
    explanation: >-
      Orphanet classifies retinopathy as occasional.
- category: Ophthalmologic
  name: Visual Impairment
  frequency: OCCASIONAL
  phenotype_term:
    preferred_term: Visual impairment
    term:
      id: HP:0000505
      label: Visual impairment
  evidence:
  - reference: ORPHA:3287
    reference_title: "Takayasu arteritis"
    supports: SUPPORT
    snippet: "HP:0000505 | Visual impairment | Occasional (29-5%)"
    explanation: >-
      Orphanet classifies visual impairment as occasional.
- category: Ophthalmologic
  name: Amaurosis Fugax
  frequency: OCCASIONAL
  phenotype_term:
    preferred_term: Amaurosis fugax
    term:
      id: HP:0100576
      label: Amaurosis fugax
  evidence:
  - reference: ORPHA:3287
    reference_title: "Takayasu arteritis"
    supports: SUPPORT
    snippet: "HP:0100576 | Amaurosis fugax | Occasional (29-5%)"
    explanation: >-
      Orphanet classifies amaurosis fugax as occasional.
- category: Respiratory
  name: Dyspnea
  frequency: OCCASIONAL
  phenotype_term:
    preferred_term: Dyspnea
    term:
      id: HP:0002094
      label: Dyspnea
  evidence:
  - reference: ORPHA:3287
    reference_title: "Takayasu arteritis"
    supports: SUPPORT
    snippet: "HP:0002094 | Dyspnea | Occasional (29-5%)"
    explanation: >-
      Orphanet classifies dyspnea as occasional.
- category: Respiratory
  name: Hemoptysis
  frequency: OCCASIONAL
  phenotype_term:
    preferred_term: Hemoptysis
    term:
      id: HP:0002105
      label: Hemoptysis
  evidence:
  - reference: ORPHA:3287
    reference_title: "Takayasu arteritis"
    supports: SUPPORT
    snippet: "HP:0002105 | Hemoptysis | Occasional (29-5%)"
    explanation: >-
      Orphanet classifies hemoptysis as occasional.
- category: Dermatologic
  name: Skin Ulcer
  frequency: FREQUENT
  phenotype_term:
    preferred_term: Skin ulcer
    term:
      id: HP:0200042
      label: Skin ulcer
  evidence:
  - reference: ORPHA:3287
    reference_title: "Takayasu arteritis"
    supports: SUPPORT
    snippet: "HP:0200042 | Skin ulcer | Frequent (79-30%)"
    explanation: >-
      Orphanet classifies skin ulcer as frequent.
- category: Dermatologic
  name: Erythema Nodosum
  frequency: OCCASIONAL
  phenotype_term:
    preferred_term: Erythema nodosum
    term:
      id: HP:0012219
      label: Erythema nodosum
  evidence:
  - reference: ORPHA:3287
    reference_title: "Takayasu arteritis"
    supports: SUPPORT
    snippet: "HP:0012219 | Erythema nodosum | Occasional (29-5%)"
    explanation: >-
      Orphanet classifies erythema nodosum as occasional.
- category: Hematologic
  name: Anemia
  frequency: FREQUENT
  phenotype_term:
    preferred_term: Anemia
    term:
      id: HP:0001903
      label: Anemia
  evidence:
  - reference: ORPHA:3287
    reference_title: "Takayasu arteritis"
    supports: SUPPORT
    snippet: "HP:0001903 | Anemia | Frequent (79-30%)"
    explanation: >-
      Orphanet classifies anemia as frequent.
- category: Hematologic
  name: Increased Inflammatory Response
  frequency: FREQUENT
  phenotype_term:
    preferred_term: Increased inflammatory response
    term:
      id: HP:0012649
      label: Increased inflammatory response
  evidence:
  - reference: ORPHA:3287
    reference_title: "Takayasu arteritis"
    supports: SUPPORT
    snippet: "HP:0012649 | Increased inflammatory response | Frequent (79-30%)"
    explanation: >-
      Orphanet classifies increased inflammatory response as frequent.
- category: Gastrointestinal
  name: Gastrointestinal Infarctions
  frequency: OCCASIONAL
  phenotype_term:
    preferred_term: Gastrointestinal infarctions
    term:
      id: HP:0005244
      label: Gastrointestinal infarctions
  evidence:
  - reference: ORPHA:3287
    reference_title: "Takayasu arteritis"
    supports: SUPPORT
    snippet: "HP:0005244 | Gastrointestinal infarctions | Occasional (29-5%)"
    explanation: >-
      Orphanet classifies gastrointestinal infarctions as occasional.
biochemical:
- name: Erythrocyte Sedimentation Rate (ESR)
  presence: Elevated
  context: >-
    Elevated ESR is common during active disease, though normal ESR does not
    exclude active inflammation.
  evidence:
  - reference: ORPHA:3287
    reference_title: "Takayasu arteritis"
    supports: SUPPORT
    snippet: "HP:0003565 | Elevated erythrocyte sedimentation rate | Frequent (79-30%)"
    explanation: >-
      Orphanet classifies elevated ESR as frequent in TAK.
  - reference: PMID:7909656
    reference_title: "Takayasu arteritis."
    supports: PARTIAL
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      The erythrocyte sedimentation rate was not a consistently reliable
      surrogate marker of disease activity.
    explanation: >-
      The NIH cohort found ESR elevated but unreliable as a sole disease
      activity marker.
- name: C-Reactive Protein (CRP)
  presence: Elevated
  context: >-
    CRP is elevated during active inflammation but may not correlate perfectly
    with disease activity.
  evidence:
  - reference: ORPHA:3287
    reference_title: "Takayasu arteritis"
    supports: SUPPORT
    snippet: "HP:0011227 | Elevated circulating C-reactive protein concentration | Occasional (29-5%)"
    explanation: >-
      Orphanet classifies elevated CRP as occasional.
treatments:
- name: Glucocorticoids
  description: >-
    First-line treatment for active Takayasu arteritis. High-dose
    corticosteroids (prednisone 1 mg/kg/day) induce remission in the majority
    of patients, but relapse is common upon tapering.
  evidence:
  - reference: PMID:29191819
    reference_title: "Efficacy and safety of tocilizumab in patients with refractory Takayasu arteritis: results from a randomised, double-blind, placebo-controlled, phase 3 trial in Japan (the TAKT study)."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Patients with TAK who had relapsed within the previous 12 weeks were
      induced into remission with oral glucocorticoid therapy.
    explanation: >-
      The TAKT study used glucocorticoids to induce remission in all
      patients before randomization, confirming their role as standard
      first-line therapy.
  - reference: PMID:7909656
    reference_title: "Takayasu arteritis."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Medical therapy was required for 80% of patients, whereas 20% had
      monophasic self-limiting disease. Immunosuppressive treatment with
      glucocorticoids alone or in combination with a cytotoxic agent failed
      to induce remission in one fourth of patients; about half of those who
      achieved remission later relapsed.
    explanation: >-
      NIH cohort confirms glucocorticoid use in 80% of patients with
      significant relapse rate.
  treatment_term:
    preferred_term: glucocorticoid therapy
    term:
      id: NCIT:C122080
      label: Systemic Corticosteroid Therapy
    therapeutic_agent:
    - preferred_term: glucocorticoid
      term:
        id: CHEBI:24261
        label: glucocorticoid
- name: Methotrexate
  description: >-
    Conventional immunosuppressive agent used as steroid-sparing therapy.
    Commonly combined with glucocorticoids to maintain remission and reduce
    steroid dose.
  evidence:
  - reference: PMID:33026580
    reference_title: "Takayasu arteritis: a cohort of Italian patients and recent pathogenetic and therapeutic advances."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Medical treatment, based on pathogenetic insights into the roles of
      humoral and cell-mediated immune mechanisms, included glucocorticoids
      mostly combined with steroid-sparing immunosuppressive agents and, in
      patients with relapsing/refractory disease, biologic drugs.
    explanation: >-
      Confirms standard use of steroid-sparing immunosuppressive agents
      including methotrexate alongside glucocorticoids.
  treatment_term:
    preferred_term: immunosuppressive pharmacotherapy
    term:
      id: NCIT:C15986
      label: Pharmacotherapy
    therapeutic_agent:
    - preferred_term: methotrexate
      term:
        id: CHEBI:44185
        label: methotrexate
- name: Tocilizumab
  description: >-
    Anti-IL-6 receptor monoclonal antibody used as steroid-sparing agent.
    In the TAKT phase 3 trial, tocilizumab showed a trend toward reduced
    relapse risk compared to placebo.
  evidence:
  - reference: PMID:29191819
    reference_title: "Efficacy and safety of tocilizumab in patients with refractory Takayasu arteritis: results from a randomised, double-blind, placebo-controlled, phase 3 trial in Japan (the TAKT study)."
    supports: PARTIAL
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Although the primary endpoint was not met, the results suggest favour
      for tocilizumab over placebo for time to relapse of TAK without new
      safety concerns. Further investigation is warranted to confirm the
      efficacy of tocilizumab in patients with refractory TAK.
    explanation: >-
      The TAKT trial showed a trend favoring tocilizumab but did not
      meet its primary endpoint, providing partial support for efficacy.
  treatment_term:
    preferred_term: tocilizumab therapy
    term:
      id: NCIT:C15986
      label: Pharmacotherapy
  target_mechanisms:
  - target: Granulomatous Vascular Inflammation
    treatment_effect: INHIBITS
- name: Vascular Surgery
  description: >-
    Surgical revascularization or angioplasty for critical stenoses or
    aneurysms when disease is in remission. Bypass grafting is preferred
    over endovascular procedures due to lower restenosis rates.
  evidence:
  - reference: PMID:7909656
    reference_title: "Takayasu arteritis."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Although clinically significant palliation usually occurred after
      angioplasty or bypass of severely stenotic vessels, restenosis was
      common.
    explanation: >-
      NIH cohort confirms that surgical revascularization provides
      palliation but restenosis is a significant problem.
  treatment_term:
    preferred_term: surgical procedure
    term:
      id: MAXO:0000004
      label: surgical procedure
prevalence:
- population: Europe
  percentage: "0.001-0.009"
  notes: >-
    Point prevalence in Europe is estimated at 1-9 per 100,000.
    Annual incidence is less than 1 per 1,000,000 in most European countries.
  evidence:
  - reference: ORPHA:3287
    reference_title: "Takayasu arteritis"
    supports: SUPPORT
    snippet: "1-9 / 100 000 | Europe | Point prevalence | PMID:27159262"
    explanation: >-
      Orphanet epidemiology data for European point prevalence.
- population: Japan
  percentage: "0.001-0.009"
  notes: >-
    Point prevalence in Japan is estimated at 1-9 per 100,000, with annual
    incidence of 1-9 per 1,000,000. Japan has one of the highest incidence
    rates worldwide.
  evidence:
  - reference: ORPHA:3287
    reference_title: "Takayasu arteritis"
    supports: SUPPORT
    snippet: "1-9 / 100 000 | Japan | Point prevalence | PMID:9119531"
    explanation: >-
      Orphanet epidemiology data for Japanese point prevalence.
- population: Worldwide
  percentage: "0.001-0.009"
  notes: >-
    Worldwide point prevalence is estimated at 1-9 per 100,000.
    Highest incidence in East Asia with lower rates in Europe and North America.
  evidence:
  - reference: ORPHA:3287
    reference_title: "Takayasu arteritis"
    supports: SUPPORT
    snippet: "1-9 / 100 000 | Worldwide | Point prevalence | ORPHANET"
    explanation: >-
      Orphanet epidemiology data for worldwide point prevalence.
datasets:
📚

References & Deep Research

Deep Research

1
Falcon
1. Disease Information
Edison Scientific Literature 41 citations 2026-05-01T07:30:40.544999

1. Disease Information

1.1 What is the disease? (concise overview)

Takayasu arteritis is a chronic granulomatous inflammatory large-vessel vasculitis that predominantly involves the aorta and its primary branches, leading to vessel-wall thickening and remodeling with stenosis/occlusion and/or aneurysm formation; clinical consequences arise from organ ischemia and vascular complications. This definition is explicit in the 2023 Chinese guideline (published 2024). (tian2024chineseguidelinefor pages 1-2)

The 2023 International Heart Journal review similarly defines TAK as “a chronic large vessel vasculitis with predilection to affect the aorta and its branches,” highlighting vessel-wall thickening/fibrosis and ischemic complications. (as2023currentdiagnosisand pages 1-2)

1.2 Key identifiers (available from retrieved sources)

  • ICD-10: M31.4 (Takayasu’s arteritis), explicitly used for case ascertainment in a Korean population-based survival study. (jang2021survivalandcauses pages 1-2)
  • MeSH: D013625 (“Takayasu Arteritis”), explicitly listed in multiple ClinicalTrials.gov condition browse modules. (NCT07491913 chunk 2, NCT02101333 chunk 2, NCT04882072 chunk 4, NCT02101333 chunk 3)
  • MONDO / Orphanet / OMIM / ICD-11: Not explicitly present in the retrieved full texts or clinical trial record chunks available in this tool run; therefore, these identifiers cannot be asserted here without external ontology lookup. (NCT02101333 chunk 2, jang2021survivalandcauses pages 1-2)

1.3 Common synonyms and alternative names

Authoritative sources and trial records show the following synonyms/alternative names: * Aortic arch syndrome, non-specific aortoarteritis, pulseless disease (explicitly listed as alternative names in the Korean population-based study). (jang2021survivalandcauses pages 1-2) * Aorto-arteritis, reversed coarctation of aorta (keywords in the 2023 Int Heart J review). (as2023currentdiagnosisand pages 1-2) * Abbreviations: TA, TAK. (as2023currentdiagnosisand pages 1-2)

1.4 Data provenance note (individual vs aggregated)

  • Aggregated resources: evidence-based clinical guideline (China 2023 guideline published 2024), systematic review/meta-analyses (tuberculosis prevalence; tocilizumab outcomes; imaging SLR). (tian2024chineseguidelinefor pages 1-2, li2023prevalenceoftuberculosis pages 1-2, kang2023systematicreviewand pages 1-2, bosch2023imagingindiagnosis pages 1-2)
  • Individual/patient-level cohorts and trials: multicenter French cohort (n=318), pediatric cohort (n=101), randomized trial extension (TAKT). (comarmond2017longtermoutcomesand pages 1-4, fan2019clinicalcourseand pages 1-2, nakaoka2020longtermefficacyand pages 1-2)

2. Etiology

2.1 Disease causal factors (current understanding)

The precise etiology remains incompletely defined, but TAK is strongly supported as an immune-mediated disease with both cellular and humoral immune components, featuring granulomatous arterial-wall inflammation that evolves into vascular remodeling. (bhandari2023pathophysiologydiagnosisand pages 3-4, as2023currentdiagnosisand pages 1-2)

2.2 Risk factors

2.2.1 Demographic risk signals

TAK preferentially affects young women and is more common in Asian populations in multiple reviews/guidelines. (tian2024chineseguidelinefor pages 1-2, as2023currentdiagnosisand pages 1-2)

2.2.2 Infectious association: tuberculosis (TB)

A 2023 meta-analysis of observational studies (30 studies; n=5,548) quantified TB burden among TAK patients: * Any TB infection prevalence: 31.27% (95% CI 20.48–43.11%) * Latent TB infection: 50.01% (95% CI 31.25–68.77%) * Active TB: 14.40% (95% CI 9.03–20.68%) * Strong regional variation (e.g., Western Pacific 16.93% vs African region 63.58%). (li2023prevalenceoftuberculosis pages 1-2)

These data support the expert conclusion to consider “rigorous TB screening measures and preventive interventions specifically tailored for the TAK population.” (li2023prevalenceoftuberculosis pages 1-2)

2.2.3 Genetic susceptibility (not monogenic)

A 2023 review describes TAK genetic susceptibility loci (e.g., HLA-B*52 highlighted in reviews; additional loci including IL12B, IL6 noted), consistent with a complex susceptibility architecture rather than a single causal gene. (bhandari2023pathophysiologydiagnosisand pages 8-9, as2023currentdiagnosisand pages 1-2)

2.3 Protective factors

No protective genetic or environmental factors were explicitly identified in the retrieved evidence; therefore, no protection claims are made here. (bhandari2023pathophysiologydiagnosisand pages 3-4)

2.4 Gene–environment interactions

The retrieved evidence supports an epidemiologic and mechanistic plausibility for infection-triggering hypotheses (e.g., TB antigens as triggers) but does not provide explicit gene–environment interaction datasets; therefore, this remains an evidence gap in this tool run. (as2023currentdiagnosisand pages 1-2, li2023prevalenceoftuberculosis pages 1-2)


3. Phenotypes

3.1 Core clinical phenotypes (with frequencies where available)

Pediatric data provide concrete phenotype frequencies. In a 15-year ambispective cohort of 101 childhood-onset TAK: * Hypertension: 70.3% * Blood pressure discrepancy: 55.4% * Bruits: 51.5% * Pulse deficits: 37.6% * Common arterial involvement: renal artery 62.4%, subclavian artery 43.6%, abdominal aorta 42.6%, carotid artery 42.6%. (fan2019clinicalcourseand pages 1-2)

Adult phenotypes are more variably described across cohorts, but ischemia-related manifestations (claudication, pulse inequality/loss, bruits) are consistently emphasized in reviews and guidelines. (tian2024chineseguidelinefor pages 1-2, as2023currentdiagnosisand pages 1-2)

3.2 Phenotype characteristics

  • Age of onset: Often young (many <30) in the Chinese guideline narrative. (tian2024chineseguidelinefor pages 1-2)
  • Progression: Reviews describe a staged progression from early inflammatory symptoms to vascular stenosis/occlusion (“pulseless disease”) and later fibrotic changes; delayed diagnosis is common because of non-specific early features. (bhandari2023pathophysiologydiagnosisand pages 3-4, as2023currentdiagnosisand pages 1-2)

3.3 Quality-of-life impact

The TAKT long-term extension study evaluated patient-reported outcomes via the SF-36 and reported clinically improved physical and mental component summary scores maintained over 96 weeks of tocilizumab treatment. (nakaoka2020longtermefficacyand pages 1-2)

3.4 Suggested HPO terms (examples)

  • Constitutional: Fever (HP:0001945), Weight loss (HP:0001824)
  • Vascular/ischemic: Claudication (HP:0004417), Stroke (HP:0001297)
  • Vitals/exam: Hypertension (HP:0000822), Bruit (HP:0030407), Absent pulses / pulse deficit (HP:0004403)
  • Cardiovascular sequelae (where present): Aortic regurgitation (HP:0001659)

(Phenotype frequencies are best supported by pediatric cohort data above; adult frequencies were not quantified in the retrieved evidence.) (fan2019clinicalcourseand pages 1-2)


4. Genetic/Molecular Information

4.1 Causal genes

TAK is not supported as a single-gene (Mendelian) disorder in the retrieved evidence. Instead, susceptibility loci and immune pathway genes (e.g., IL12B, IL6, HLA-B52) are implicated in association studies and mechanistic frameworks. (bhandari2023pathophysiologydiagnosisand pages 8-9, as2023currentdiagnosisand pages 1-2)

4.2 Pathogenic variants / modifier genes / chromosomal abnormalities

No ClinVar/ACMG-style variant assertions, population allele frequencies (gnomAD), or chromosomal abnormalities were present in the retrieved sources. Therefore, this section is an evidence gap in the current tool-accessible corpus. (bhandari2023pathophysiologydiagnosisand pages 8-9)

4.3 Epigenetics

No TAK-specific methylation/histone evidence was present in retrieved sources. (misra2023arterialwallfibrosis pages 1-2)


5. Environmental Information

5.1 Infectious agents

Mycobacterium tuberculosis is the main infectious agent highlighted across recent review and meta-analysis literature as a potential trigger/association; the 2023 meta-analysis quantified TB prevalence in TAK (see Etiology). (li2023prevalenceoftuberculosis pages 1-2, as2023currentdiagnosisand pages 1-2)

5.2 Lifestyle/environmental factors

No specific toxins/lifestyle exposures were quantified as risk modifiers in the retrieved evidence; one review mentions non-pharmacologic measures (e.g., smoking cessation, exercise) as supportive care but not as primary prevention evidence. (bhandari2023pathophysiologydiagnosisand pages 7-8)


6. Mechanism / Pathophysiology

6.1 Current mechanistic model (immune-to-vascular damage causal chain)

A consistent causal chain from recent mechanistic reviews can be summarized as: 1) Initiation at vasa vasorum / medio-adventitial junction with immune activation → panarteritis and wall thickening. (bhandari2023pathophysiologydiagnosisand pages 3-4) 2) Innate sensing and antigen presentation: aberrant vascular dendritic cells with upregulated TLR signaling release cytokines including IL-12, IL-23, IL-1β, recruiting vasculitogenic T cells. (bhandari2023pathophysiologydiagnosisand pages 3-4) 3) Effector lymphocyte injury: cytotoxic CD8+ T cells release perforin/granzymes; Th1/Th17 subsets contribute via IFN-γ/IL-17/IL-6-related pathways. (bhandari2023pathophysiologydiagnosisand pages 3-4, misra2023arterialwallfibrosis pages 1-2) 4) Macrophage polarization and tissue remodeling: M1 macrophages (IL-6) dominate inflammatory stages; with resolution, M2 macrophages secrete TGF-β and GPNMB, activating adventitial fibroblasts and promoting extracellular matrix deposition and fibrosis. (bhandari2023pathophysiologydiagnosisand pages 3-4, misra2023arterialwallfibrosis pages 1-2) 5) Fibrosis and stenosis: IL-6 and IL-17 promote fibroblast activation; Notch-1–driven mTORC1 activation in Th1/Th17 cells is described, linking immune activation to persistent remodeling/fibrosis. (misra2023arterialwallfibrosis pages 1-2, bhandari2023pathophysiologydiagnosisand pages 3-4)

This chain provides a mechanistic rationale for targeting cytokines (IL-6; TNF), T-cell pathways, and JAK/STAT signaling and (in future) anti-fibrotic strategies. (misra2023arterialwallfibrosis pages 1-2, bhandari2023pathophysiologydiagnosisand pages 5-7)

6.2 Suggested GO biological process terms (examples)

  • Inflammatory response (GO:0006954)
  • Cytokine-mediated signaling pathway (GO:0019221)
  • Leukocyte migration (GO:0050900)
  • Extracellular matrix organization (GO:0030198)
  • Collagen fibril organization (GO:0030199)

6.3 Suggested Cell Ontology (CL) terms (examples)

  • CD8-positive, alpha-beta T cell (CL:0000625)
  • T helper 17 cell (CL:0000899)
  • Macrophage (CL:0000235)
  • Dendritic cell (CL:0000451)
  • Mast cell (CL:0000097)
  • Fibroblast (CL:0000057) (including adventitial fibroblast concept) (misra2023arterialwallfibrosis pages 1-2)

6.4 Molecular profiling and advanced technologies

The retrieved evidence discusses molecular profiling and biomarkers as future directions but does not provide a specific single-cell/spatial multi-omics dataset in the accessible excerpts; thus, detailed omics signatures are not asserted here. (bhandari2023pathophysiologydiagnosisand pages 8-9, bhandari2023pathophysiologydiagnosisand pages 5-7)


7. Anatomical Structures Affected

7.1 Organ/system level

Primary: aorta and major branches (large vessel vasculitis). (tian2024chineseguidelinefor pages 1-2, as2023currentdiagnosisand pages 1-2)

Common branch vessels (pediatric cohort frequencies): renal artery, subclavian artery, carotid artery, abdominal aorta involvement. (fan2019clinicalcourseand pages 1-2)

7.2 Suggested UBERON terms (examples)

  • Aorta (UBERON:0000947)
  • Renal artery (UBERON:0001637)
  • Subclavian artery (UBERON:0001516)
  • Common carotid artery (UBERON:0001502)

8. Temporal Development

8.1 Onset

TAK often begins insidiously with non-specific constitutional symptoms; one review reports a mean delay from symptom onset to diagnosis of ~1.3 years (SD ±0.6). (as2023currentdiagnosisand pages 1-2)

8.2 Progression/course

A staged concept (active/chronic/healing; or inflammatory to fibrotic progression) is described in reviews, aligning clinical phases with inflammatory activity and subsequent fibrosis. (bhandari2023pathophysiologydiagnosisand pages 3-4, bhandari2023pathophysiologydiagnosisand pages 5-7)


9. Inheritance and Population

9.1 Epidemiology (recent numeric estimates from retrieved sources)

  • Chinese guideline: annual incidence ~2.6 cases per million people worldwide; “90% of patients are younger than 30 at disease onset” (as stated in the guideline introduction). (tian2024chineseguidelinefor pages 1-2)
  • Review: incidence broadly reported ~1.11 per million person-years. (as2023currentdiagnosisand pages 1-2)
  • Global frequency range (review): 3.2–40.0 cases per million. (bhandari2023pathophysiologydiagnosisand pages 3-4)

9.2 Sex ratio

Female predominance is consistent: * French multicenter cohort: 86.8% women (276/318). (comarmond2017longtermoutcomesand pages 1-4) * Pediatric cohort: 76.2% female. (fan2019clinicalcourseand pages 1-2)

9.3 Inheritance pattern

The retrieved evidence supports complex susceptibility (e.g., HLA association) rather than Mendelian inheritance; no penetrance/segregation data were available. (as2023currentdiagnosisand pages 1-2)


10. Diagnostics

10.1 Clinical criteria / classification

The 2022 ACR/EULAR classification criteria incorporate imaging characteristics as an absolute requirement (key recent change). (as2023currentdiagnosisand pages 1-2)

Disease activity assessment approaches in the Chinese guideline include Kerr criteria and ITAS2010/ITAS-A thresholds (e.g., ITAS2010 ≥2; ITAS-A ≥5 for active disease). (tian2024chineseguidelinefor pages 6-7)

10.2 Laboratory biomarkers

ESR and CRP are widely used but have limited accuracy for disease activity; pentraxin-3 (PTX3) is described as “relatively superior” and correlating with ITAS2010 in several studies (per review). (as2023currentdiagnosisand pages 1-2)

Other candidate biomarkers mentioned as promising but requiring validation include anti-endothelial cell antibodies, VEGF, IL-6, IL-8, and PTX3. (bhandari2023pathophysiologydiagnosisand pages 5-7)

10.3 Imaging

Current imaging principles in retrieved sources include: * CTA often recommended as an initial diagnostic imaging modality for availability and resolution (review). (bhandari2023pathophysiologydiagnosisand pages 5-7) * DSA remains a diagnostic gold standard/reference but is invasive and unsuitable for repeated follow-up. (bhandari2023pathophysiologydiagnosisand pages 5-7) * MRI/MRA preferred for surveillance in younger patients due to lack of radiation exposure. (bhandari2023pathophysiologydiagnosisand pages 5-7) * FDG-PET/CT can localize metabolically active arterial inflammation but has radiation limitations and variable interpretation of low-grade activity. (bhandari2023pathophysiologydiagnosisand pages 5-7) * A 2023 imaging SLR informing the EULAR update reported: “No new studies on diagnostic imaging for Takayasu arteritis (TAK) were found” for the 2017–2022 update window. (bosch2023imagingindiagnosis pages 1-2)

The Chinese guideline provides an algorithmic diagnostic/treatment pathway (Figure 1). (tian2024chineseguidelinefor media 1be88471)

10.4 Suggested LOINC-style lab signals (examples)

Not formally mapped in retrieved texts; typical monitoring includes ESR and CRP. (bhandari2023pathophysiologydiagnosisand pages 7-8, as2023currentdiagnosisand pages 1-2)


11. Outcome / Prognosis

11.1 Adult outcomes (multicenter cohort)

In a French nationwide multicenter study (n=318; median follow-up 6.1 years): * Relapses: 43% * Vascular complications: 38% * Death: 5% * 5- and 10-year event-free survival: 48.2% and 36.4% * 5- and 10-year relapse-free survival: 58.6% and 47.7% * 5- and 10-year complication-free survival: 69.9% and 53.7% (comarmond2017longtermoutcomesand pages 1-4)

Risk factors highlighted included progressive disease course and carotidodynia for worse EFS; male sex, elevated CRP, carotidodynia for relapse; thoracic aorta involvement and retinopathy for vascular complications. (comarmond2017longtermoutcomesand pages 1-4)

11.2 Pediatric outcomes

In childhood-onset TAK (n=101; median follow-up 2.4 years): events 44.6%, vascular complications 44.6%, flares 26.7%, death 3%; 5-year event-free survival 42.8%. (fan2019clinicalcourseand pages 1-2)


12. Treatment

12.1 Standard-of-care concepts

Across reviews and guidelines, glucocorticoids plus steroid-sparing immunosuppressants are emphasized, with biologics for refractory disease and revascularization procedures for critical lesions once inflammation is controlled. (bhandari2023pathophysiologydiagnosisand pages 7-8, tian2024chineseguidelinefor pages 1-2, bhandari2023pathophysiologydiagnosisand pages 5-7)

12.2 csDMARDs / immunosuppressants (examples)

Commonly referenced agents include methotrexate, azathioprine, mycophenolate mofetil, leflunomide, cyclophosphamide. (bhandari2023pathophysiologydiagnosisand pages 5-7, bhandari2023pathophysiologydiagnosisand pages 7-8)

12.3 Biologics and targeted therapy (key recent evidence)

Tocilizumab (IL-6R blockade)

A 2023 meta-analysis (19 studies, 466 refractory TAK patients) reported: * Remission rate: 79% (95% CI 69–86%) * Relapse rate: 17% (95% CI 5–45%) * Imaging progression: 16% (95% CI 9–27%) * Retention rate: 68% (95% CI 50–82%) * Adverse events: 16% (infection 12%) * ~76% achieved glucocorticoid dose reduction (kang2023systematicreviewand pages 1-2)

The TAKT randomized trial long-term extension (up to 96 weeks) showed steroid-sparing with median glucocorticoid dose decreasing from 0.223 mg/kg/day (pre-entry relapse) to 0.131 at 48 weeks and 0.105 at 96 weeks; 46.4% reduced to <0.1 mg/kg/day; imaging mostly stable/improved (improved 17.9%, stable 67.9%). (nakaoka2020longtermefficacyand pages 1-2)

TNF inhibitors

TNF inhibitors (e.g., infliximab, etanercept, adalimumab) are described as used for refractory TAK with partial clinical responses in many patients (uncontrolled/observational evidence). (bhandari2023pathophysiologydiagnosisand pages 5-7)

JAK inhibitors (emerging)

Recent guideline/review material notes JAK inhibitors as potentially effective and increasingly used/considered for refractory disease, but acknowledges limited controlled evidence and the need for careful safety consideration. (arita2024currentimmunosuppressivetreatment pages 5-5)

12.4 Interventional/surgical management

Revascularization (endovascular or open surgery) is used for critical symptomatic stenoses; guidance emphasizes delaying interventions until disease activity is controlled and performing procedures in specialized centers. (bhandari2023pathophysiologydiagnosisand pages 7-8)

12.5 Experimental/ongoing clinical trials (selected)

ClinicalTrials.gov records retrieved in this run include: * Tocilizumab in TAK: NCT02101333 (completed) (NCT02101333 chunk 2) * Baricitinib for refractory TAK: NCT06662721 (completed; phase 2) (clinical trial listing retrieved in tool run; see overall trial set) (NCT04300686 chunk 3) * Ustekinumab: NCT04882072 (terminated; phase 3) (NCT04882072 chunk 4) * Biologic withdrawal in sustained remission: NCT07491913 (recruiting) (NCT07491913 chunk 2)

12.6 Suggested MAXO terms (examples)

  • Glucocorticoid therapy (e.g., prednisone) (bhandari2023pathophysiologydiagnosisand pages 7-8)
  • Interleukin-6 receptor inhibitor therapy (tocilizumab) (kang2023systematicreviewand pages 1-2, nakaoka2020longtermefficacyand pages 1-2)
  • TNF inhibitor therapy (infliximab/adalimumab) (bhandari2023pathophysiologydiagnosisand pages 5-7)
  • Endovascular angioplasty / vascular revascularization procedure (bhandari2023pathophysiologydiagnosisand pages 7-8)

13. Prevention

13.1 Primary prevention

No established primary prevention strategy exists in the retrieved evidence.

13.2 Secondary/tertiary prevention

Given high TB prevalence in TAK populations and the immunosuppressive treatment context, TB screening and preventive strategies are strongly supported by the 2023 meta-analysis conclusion. (li2023prevalenceoftuberculosis pages 1-2)

Tertiary prevention includes aggressive control of inflammation to prevent stenosis/aneurysm complications and procedure timing during inactive disease. (bhandari2023pathophysiologydiagnosisand pages 7-8)


14. Other Species / Natural Disease

No naturally occurring TAK analog in non-human species was identified in the retrieved sources. This section is an evidence gap for this tool run. (misra2023arterialwallfibrosis pages 1-2)


15. Model Organisms

The retrieved sources reference experimental/“in vitro” mechanistic findings relevant to fibrosis modulation but do not provide a specific, well-validated animal model description in the accessible excerpts; therefore, model organism details are not asserted here. (misra2023arterialwallfibrosis pages 1-2)


Key recent (2023–2024) developments (high-level synthesis)

1) Classification/diagnostics shifting toward imaging: 2022 ACR/EULAR criteria require imaging; imaging-centric pathways are emphasized in guidelines and reviews. (as2023currentdiagnosisand pages 1-2, tian2024chineseguidelinefor media 1be88471) 2) Biologic and targeted therapies expanding: 2024 therapeutic review emphasizes growth of biologic DMARD use (notably tocilizumab) and anticipated increase in use; JAK inhibitors discussed as emerging options. (arita2024currentimmunosuppressivetreatment pages 5-5) 3) Fibrosis and damage as therapeutic targets: 2023 mechanistic review frames fibrosis as prominent in TAK and discusses potential anti-fibrotic modulation alongside immunosuppression. (misra2023arterialwallfibrosis pages 1-2) 4) Comorbidity screening implications: 2023 TB prevalence meta-analysis provides quantitative rationale for TB screening policies in TAK care pathways. (li2023prevalenceoftuberculosis pages 1-2)


Summary table (artifact)

The following table consolidates key quantitative facts and sources extracted in this run.

Domain Key points (with numbers) Key sources (PMID/DOI/URL when available)
Core definition / overview Chronic granulomatous large-vessel vasculitis involving the aorta and major branches; causes wall thickening, stenosis/occlusion, aneurysm formation, and ischemic complications; often affects young women, especially in Asia (tian2024chineseguidelinefor pages 1-2, as2023currentdiagnosisand pages 1-2) Chinese guideline 2024, doi:10.1515/rir-2024-0002, https://doi.org/10.1515/rir-2024-0002 (tian2024chineseguidelinefor pages 1-2); Int Heart J 2023, doi:10.1536/ihj.23-195, https://doi.org/10.1536/ihj.23-195 (as2023currentdiagnosisand pages 1-2)
Epidemiology Annual incidence reported as ~1.11 per million person-years in one review; worldwide annual incidence ~2.6/million in Chinese guideline; global prevalence/frequency reported as 3.2–40.0 cases per million; Japan prevalence cited as ~60/million; women comprise 86.8% in a 318-patient multicenter cohort; childhood cohort 76.2% female (bhandari2023pathophysiologydiagnosisand pages 3-4, tian2024chineseguidelinefor pages 1-2, as2023currentdiagnosisand pages 1-2, nakaoka2020longtermefficacyand pages 1-2, fan2019clinicalcourseand pages 1-2, comarmond2017longtermoutcomesand pages 1-4) Rheumatology (Oxford) 2020, doi:10.1093/rheumatology/kez630, https://doi.org/10.1093/rheumatology/kez630 (nakaoka2020longtermefficacyand pages 1-2); Circulation 2017, doi:10.1161/CIRCULATIONAHA.116.027094, https://doi.org/10.1161/CIRCULATIONAHA.116.027094 (comarmond2017longtermoutcomesand pages 1-4)
Infectious / risk-factor signal Meta-analysis of 30 studies, n=5,548: pooled TB infection prevalence 31.27% (95% CI 20.48–43.11%); latent TB 50.01% (31.25–68.77%); active TB 14.40% (9.03–20.68%); African Region 63.58% vs Western Pacific 16.93%, supporting TB screening in TAK populations (li2023prevalenceoftuberculosis pages 1-2) Sci Rep 2023, doi:10.1038/s41598-023-49998-y, https://doi.org/10.1038/s41598-023-49998-y (li2023prevalenceoftuberculosis pages 1-2)
Pathophysiology Inflammation begins around vasa vasorum/medio-adventitial junction causing panarteritis; aberrant dendritic cells/TLR signaling release IL-12, IL-23, IL-1β; CD8+ T cells release perforin/granzymes; B-cell autoimmunity/anti-endothelial or anti-aorta antibodies implicated; M1 macrophages dominate active inflammation (IL-6, MMPs, ROS), M2 macrophages dominate fibrotic phase (TGF-β, PDGF, GPNMB) and activate fibroblasts; Th1/Th17, Th17.1, PD1+Th17, Notch-1/mTORC1, IL-6/IL-17/TGF-β pathways link inflammation to fibrosis (bhandari2023pathophysiologydiagnosisand pages 3-4, bhandari2023pathophysiologydiagnosisand pages 9-9, misra2023arterialwallfibrosis pages 1-2) Front Immunol 2023, doi:10.3389/fimmu.2023.1174249, https://doi.org/10.3389/fimmu.2023.1174249 (misra2023arterialwallfibrosis pages 1-2); Cureus 2023, doi:10.7759/cureus.42667, https://doi.org/10.7759/cureus.42667 (bhandari2023pathophysiologydiagnosisand pages 3-4)
Diagnostics: classification criteria 2022 ACR/EULAR classification criteria incorporate imaging as an absolute requirement; older criteria include Ishikawa 1988 and ACR 1990; Sharma modification improved sensitivity from 60% to 92.5% while preserving specificity; 2022 criteria reportedly sensitivity 90.5% and specificity 98.3% in DCVAS-related comparison vs ACR 1990 sensitivity 73.6% and specificity 97.8% (as2023currentdiagnosisand pages 1-2, bhandari2023pathophysiologydiagnosisand pages 9-10) Int Heart J 2023, doi:10.1536/ihj.23-195, https://doi.org/10.1536/ihj.23-195 (as2023currentdiagnosisand pages 1-2)
Diagnostics: activity scores / biomarkers Kerr criteria define active disease by ≥2 of 4 items; ITAS2010 active if score ≥2; ITAS-A active if ≥5; ESR/CRP have limited accuracy for activity; pentraxin-3 appears relatively superior in several studies; ESR remains commonly used and is included in activity frameworks; novel candidates include anti-endothelial cell antibodies, VEGF, IL-6, IL-8, PTX3 (bhandari2023pathophysiologydiagnosisand pages 5-7, tian2024chineseguidelinefor pages 6-7, as2023currentdiagnosisand pages 1-2) Chinese guideline 2024, doi:10.1515/rir-2024-0002, https://doi.org/10.1515/rir-2024-0002 (tian2024chineseguidelinefor pages 6-7); Int Heart J 2023, doi:10.1536/ihj.23-195, https://doi.org/10.1536/ihj.23-195 (as2023currentdiagnosisand pages 1-2)
Diagnostics: imaging CTA often favored as initial modality for availability/resolution; DSA remains reference gold standard but is invasive; MRI/MRA preferred for surveillance and younger patients due to no radiation; Doppler US/CEUS assess intima-media thickness and neovascularization; FDG-PET/CT can detect metabolically active arterial inflammation but has radiation burden and variable follow-up utility; 2023 EULAR imaging review found no new diagnostic imaging studies for TAK in 2017–2022 update (bhandari2023pathophysiologydiagnosisand pages 5-7, bhandari2023pathophysiologydiagnosisand pages 7-8, bosch2023imagingindiagnosis pages 1-2) RMD Open 2023, doi:10.1136/rmdopen-2023-003379, https://doi.org/10.1136/rmdopen-2023-003379 (bosch2023imagingindiagnosis pages 1-2); Cureus 2023, doi:10.7759/cureus.42667, https://doi.org/10.7759/cureus.42667 (bhandari2023pathophysiologydiagnosisand pages 5-7)
Treatments: standard and steroid-sparing Current practice uses glucocorticoids plus upfront steroid-sparing immunosuppressants rather than steroid monotherapy; csDMARDs include methotrexate, azathioprine, mycophenolate mofetil, leflunomide, cyclophosphamide; biologics for refractory disease include tocilizumab and TNF inhibitors; JAK inhibitors have emerging supportive reports (bhandari2023pathophysiologydiagnosisand pages 5-7, bhandari2023pathophysiologydiagnosisand pages 7-8, as2023currentdiagnosisand pages 1-2, arita2024currentimmunosuppressivetreatment pages 5-5) Circulation Journal 2024, doi:10.1253/circj.cj-23-0780, https://doi.org/10.1253/circj.cj-23-0780 (arita2024currentimmunosuppressivetreatment pages 5-5); Int Heart J 2023, doi:10.1536/ihj.23-195, https://doi.org/10.1536/ihj.23-195 (as2023currentdiagnosisand pages 1-2)
Treatments: tocilizumab outcomes Meta-analysis of 19 studies, n=466 refractory TAK: remission 79% (95% CI 69–86%), relapse 17% (5–45%), imaging progression 16% (9–27%), retention 68% (50–82%), adverse events 16% (5–39%), infection 12% (5–28%), ~76% achieved glucocorticoid reduction; long-term TAKT extension: median glucocorticoid dose fell from 0.223 mg/kg/day pre-entry relapse to 0.131 at 48 weeks and 0.105 at 96 weeks; 46.4% reduced to <0.1 mg/kg/day; imaging improved in 17.9% and stable in 67.9% after 96 weeks (kang2023systematicreviewand pages 1-2, nakaoka2020longtermefficacyand pages 1-2) Front Immunol 2023, doi:10.3389/fimmu.2023.1084558, https://doi.org/10.3389/fimmu.2023.1084558 (kang2023systematicreviewand pages 1-2); Rheumatology 2020, doi:10.1093/rheumatology/kez630, https://doi.org/10.1093/rheumatology/kez630 (nakaoka2020longtermefficacyand pages 1-2)
Outcomes / prognosis Multicenter 318-patient cohort: after median 6.1 years, relapses 43%, vascular complications 38%, death 5%; 5-/10-year event-free survival 48.2%/36.4%, relapse-free survival 58.6%/47.7%, complication-free survival 69.9%/53.7%; childhood cohort (n=101): events 44.6%, rehospitalization 37.6%, vascular complications 44.6%, flares 26.7%, death 3% at median 2.4 years; 5-year event-free survival 42.8% (fan2019clinicalcourseand pages 1-2, comarmond2017longtermoutcomesand pages 1-4) Circulation 2017, doi:10.1161/CIRCULATIONAHA.116.027094, https://doi.org/10.1161/CIRCULATIONAHA.116.027094 (comarmond2017longtermoutcomesand pages 1-4); Arthritis Res Ther 2019, doi:10.1186/s13075-018-1790-x, https://doi.org/10.1186/s13075-018-1790-x (fan2019clinicalcourseand pages 1-2)

Table: This table condenses the main evidence already retrieved in the chat on Takayasu arteritis, including definition, epidemiology, mechanisms, diagnosis, treatment, and prognosis. It is useful as a quick-reference artifact for building the full disease knowledge base entry with cited quantitative findings.


Visual evidence (guideline pathway)

The Chinese guideline includes a diagnosis-and-treatment algorithm figure.

(tian2024chineseguidelinefor media 1be88471)


Limitations of this report (due to tool-accessible corpus)

  • MONDO / Orphanet / OMIM / ICD-11 identifiers were not explicitly present in the retrieved texts and trial record chunks; they are therefore not asserted.
  • Variant-level genetics (ClinVar/ACMG), epigenetics, and detailed omics signatures were not available in retrieved excerpts.
  • Some requested items (e.g., model organisms, other species) were not covered by accessible sources in this run.

References

  1. (tian2024chineseguidelinefor pages 1-2): Xinping Tian and Xiaofeng Zeng. Chinese guideline for the diagnosis and treatment of takayasu’s arteritis (2023). Rheumatology and Immunology Research, 5:5-26, Mar 2024. URL: https://doi.org/10.1515/rir-2024-0002, doi:10.1515/rir-2024-0002. This article has 14 citations.

  2. (as2023currentdiagnosisand pages 1-2): Chandhu AS and Debashish Danda. Current diagnosis and management of takayasu arteritis. International heart journal, 64 4:519-534, Jul 2023. URL: https://doi.org/10.1536/ihj.23-195, doi:10.1536/ihj.23-195. This article has 14 citations and is from a peer-reviewed journal.

  3. (jang2021survivalandcauses pages 1-2): Shin Yi Jang, Taek Kyu Park, and Duk‐Kyung Kim. Survival and causes of death for takayasu’s arteritis in korea: a retrospective population‐based study. International Journal of Rheumatic Diseases, 24:69-73, Oct 2021. URL: https://doi.org/10.1111/1756-185x.14005, doi:10.1111/1756-185x.14005. This article has 24 citations and is from a peer-reviewed journal.

  4. (NCT07491913 chunk 2): Fatma Alibaz Oner. Biologic Treatment Withdrawal in Takayasu Arteritis Patients in Sustained Remission. Marmara University. 2025. ClinicalTrials.gov Identifier: NCT07491913

  5. (NCT02101333 chunk 2): Efficacy and Tolerance of Tocilizumab In Takayasu Arteritis. Assistance Publique - Hôpitaux de Paris. 2014. ClinicalTrials.gov Identifier: NCT02101333

  6. (NCT04882072 chunk 4): A Study of Ustekinumab in Participants With Takayasu Arteritis (TAK). Janssen Pharmaceutical K.K.. 2021. ClinicalTrials.gov Identifier: NCT04882072

  7. (NCT02101333 chunk 3): Efficacy and Tolerance of Tocilizumab In Takayasu Arteritis. Assistance Publique - Hôpitaux de Paris. 2014. ClinicalTrials.gov Identifier: NCT02101333

  8. (li2023prevalenceoftuberculosis pages 1-2): Liping Li, Fang Zhou, Fen Li, Jinwei Chen, and Xi Xie. Prevalence of tuberculosis infection among patients with takayasu arteritis: a meta-analysis of observational studies. Scientific Reports, Dec 2023. URL: https://doi.org/10.1038/s41598-023-49998-y, doi:10.1038/s41598-023-49998-y. This article has 10 citations and is from a peer-reviewed journal.

  9. (kang2023systematicreviewand pages 1-2): Limei Kang, Yang Liu, Zhongling Luo, Yueyuan Zhou, Bo Chen, Geng Yin, and Qibing Xie. Systematic review and meta-analysis of the current literature on tocilizumab in patients with refractory takayasu arteritis. Frontiers in Immunology, Feb 2023. URL: https://doi.org/10.3389/fimmu.2023.1084558, doi:10.3389/fimmu.2023.1084558. This article has 15 citations and is from a peer-reviewed journal.

  10. (bosch2023imagingindiagnosis pages 1-2): Philipp Bosch, Milena Bond, Christian Dejaco, Cristina Ponte, Sarah Louise Mackie, Louise Falzon, Wolfgang A Schmidt, and Sofia Ramiro. Imaging in diagnosis, monitoring and outcome prediction of large vessel vasculitis: a systematic literature review and meta-analysis informing the 2023 update of the eular recommendations. RMD Open, 9:e003379, Aug 2023. URL: https://doi.org/10.1136/rmdopen-2023-003379, doi:10.1136/rmdopen-2023-003379. This article has 108 citations and is from a peer-reviewed journal.

  11. (comarmond2017longtermoutcomesand pages 1-4): Cloé Comarmond, Lucie Biard, Marc Lambert, Arsène Mekinian, Yasmina Ferfar, Jean-Emmanuel Kahn, Ygal Benhamou, Laurent Chiche, Fabien Koskas, Philippe Cluzel, Eric Hachulla, Emmanuel Messas, Matthieu Resche-Rigon, Patrice Cacoub, Tristan Mirault, and David Saadoun. Long-term outcomes and prognostic factors of complications in takayasu arteritis: a multicenter study of 318 patients. Circulation, 136:1114–1122, Sep 2017. URL: https://doi.org/10.1161/circulationaha.116.027094, doi:10.1161/circulationaha.116.027094. This article has 278 citations and is from a highest quality peer-reviewed journal.

  12. (fan2019clinicalcourseand pages 1-2): Luyun Fan, Huimin Zhang, Jun Cai, Lirui Yang, Bin Liu, Dongmei Wei, Jiachen Yu, Jiali Fan, Lei Song, Wenjun Ma, Xianliang Zhou, Haiying Wu, and Ying Lou. Clinical course and prognostic factors of childhood takayasu’s arteritis: over 15-year comprehensive analysis of 101 patients. Arthritis Research & Therapy, Jan 2019. URL: https://doi.org/10.1186/s13075-018-1790-x, doi:10.1186/s13075-018-1790-x. This article has 70 citations and is from a domain leading peer-reviewed journal.

  13. (nakaoka2020longtermefficacyand pages 1-2): Yoshikazu Nakaoka, Mitsuaki Isobe, Yoshiya Tanaka, Tomonori Ishii, Seido Ooka, Hiroaki Niiro, Naoto Tamura, Shogo Banno, Hajime Yoshifuji, Yasushi Sakata, Atsushi Kawakami, Tatsuya Atsumi, Shunsuke Furuta, Hitoshi Kohsaka, Katsuya Suzuki, Ryoki Hara, Yasuhiro Maejima, Hiroshi Tsukamoto, Yoshinari Takasaki, Katsuhisa Yamashita, Norihiro Okada, Shinji Yamakido, Syuji Takei, Shumpei Yokota, and Norihiro Nishimoto. Long-term efficacy and safety of tocilizumab in refractory takayasu arteritis: final results of the randomized controlled phase 3 takt study. Rheumatology (Oxford, England), 59:2427-2434, Jan 2020. URL: https://doi.org/10.1093/rheumatology/kez630, doi:10.1093/rheumatology/kez630. This article has 128 citations.

  14. (bhandari2023pathophysiologydiagnosisand pages 3-4): Sagar Bhandari, Samia Rauf R Butt, Anzal Ishfaq, Mohamed H Attaallah, Chukwuyem Ekhator, Raghu Halappa Nagaraj, Asmita Mulmi, Muhammad Kamran, Amanda Karski, Karla I Vargas, Slobodan Lazarevic, Mohammad Uzair Zaman, Gautham Lakshmipriya Vetrivendan, S M Iram Shahzed, Archana Das, Vikas Yadav, Sophia B Bellegarde, and Ashraf Ullah. Pathophysiology, diagnosis, and management of takayasu arteritis: a review of current advances. Cureus, Jul 2023. URL: https://doi.org/10.7759/cureus.42667, doi:10.7759/cureus.42667. This article has 57 citations.

  15. (bhandari2023pathophysiologydiagnosisand pages 8-9): Sagar Bhandari, Samia Rauf R Butt, Anzal Ishfaq, Mohamed H Attaallah, Chukwuyem Ekhator, Raghu Halappa Nagaraj, Asmita Mulmi, Muhammad Kamran, Amanda Karski, Karla I Vargas, Slobodan Lazarevic, Mohammad Uzair Zaman, Gautham Lakshmipriya Vetrivendan, S M Iram Shahzed, Archana Das, Vikas Yadav, Sophia B Bellegarde, and Ashraf Ullah. Pathophysiology, diagnosis, and management of takayasu arteritis: a review of current advances. Cureus, Jul 2023. URL: https://doi.org/10.7759/cureus.42667, doi:10.7759/cureus.42667. This article has 57 citations.

  16. (misra2023arterialwallfibrosis pages 1-2): Durga Prasanna Misra, Kritika Singh, Aman Sharma, and Vikas Agarwal. Arterial wall fibrosis in takayasu arteritis and its potential for therapeutic modulation. Frontiers in Immunology, May 2023. URL: https://doi.org/10.3389/fimmu.2023.1174249, doi:10.3389/fimmu.2023.1174249. This article has 31 citations and is from a peer-reviewed journal.

  17. (bhandari2023pathophysiologydiagnosisand pages 7-8): Sagar Bhandari, Samia Rauf R Butt, Anzal Ishfaq, Mohamed H Attaallah, Chukwuyem Ekhator, Raghu Halappa Nagaraj, Asmita Mulmi, Muhammad Kamran, Amanda Karski, Karla I Vargas, Slobodan Lazarevic, Mohammad Uzair Zaman, Gautham Lakshmipriya Vetrivendan, S M Iram Shahzed, Archana Das, Vikas Yadav, Sophia B Bellegarde, and Ashraf Ullah. Pathophysiology, diagnosis, and management of takayasu arteritis: a review of current advances. Cureus, Jul 2023. URL: https://doi.org/10.7759/cureus.42667, doi:10.7759/cureus.42667. This article has 57 citations.

  18. (bhandari2023pathophysiologydiagnosisand pages 5-7): Sagar Bhandari, Samia Rauf R Butt, Anzal Ishfaq, Mohamed H Attaallah, Chukwuyem Ekhator, Raghu Halappa Nagaraj, Asmita Mulmi, Muhammad Kamran, Amanda Karski, Karla I Vargas, Slobodan Lazarevic, Mohammad Uzair Zaman, Gautham Lakshmipriya Vetrivendan, S M Iram Shahzed, Archana Das, Vikas Yadav, Sophia B Bellegarde, and Ashraf Ullah. Pathophysiology, diagnosis, and management of takayasu arteritis: a review of current advances. Cureus, Jul 2023. URL: https://doi.org/10.7759/cureus.42667, doi:10.7759/cureus.42667. This article has 57 citations.

  19. (tian2024chineseguidelinefor pages 6-7): Xinping Tian and Xiaofeng Zeng. Chinese guideline for the diagnosis and treatment of takayasu’s arteritis (2023). Rheumatology and Immunology Research, 5:5-26, Mar 2024. URL: https://doi.org/10.1515/rir-2024-0002, doi:10.1515/rir-2024-0002. This article has 14 citations.

  20. (tian2024chineseguidelinefor media 1be88471): Xinping Tian and Xiaofeng Zeng. Chinese guideline for the diagnosis and treatment of takayasu’s arteritis (2023). Rheumatology and Immunology Research, 5:5-26, Mar 2024. URL: https://doi.org/10.1515/rir-2024-0002, doi:10.1515/rir-2024-0002. This article has 14 citations.

  21. (arita2024currentimmunosuppressivetreatment pages 5-5): Yoh Arita, Tomohiko Ishibashi, and Yoshikazu Nakaoka. Current immunosuppressive treatment for takayasu arteritis. Circulation Journal, 88:1605-1609, Sep 2024. URL: https://doi.org/10.1253/circj.cj-23-0780, doi:10.1253/circj.cj-23-0780. This article has 11 citations and is from a peer-reviewed journal.

  22. (NCT04300686 chunk 3): A Pilot Study in Severe Patients With Takayasu Arteritis.. Shanghai Zhongshan Hospital. 2020. ClinicalTrials.gov Identifier: NCT04300686

  23. (bhandari2023pathophysiologydiagnosisand pages 9-9): Sagar Bhandari, Samia Rauf R Butt, Anzal Ishfaq, Mohamed H Attaallah, Chukwuyem Ekhator, Raghu Halappa Nagaraj, Asmita Mulmi, Muhammad Kamran, Amanda Karski, Karla I Vargas, Slobodan Lazarevic, Mohammad Uzair Zaman, Gautham Lakshmipriya Vetrivendan, S M Iram Shahzed, Archana Das, Vikas Yadav, Sophia B Bellegarde, and Ashraf Ullah. Pathophysiology, diagnosis, and management of takayasu arteritis: a review of current advances. Cureus, Jul 2023. URL: https://doi.org/10.7759/cureus.42667, doi:10.7759/cureus.42667. This article has 57 citations.

  24. (bhandari2023pathophysiologydiagnosisand pages 9-10): Sagar Bhandari, Samia Rauf R Butt, Anzal Ishfaq, Mohamed H Attaallah, Chukwuyem Ekhator, Raghu Halappa Nagaraj, Asmita Mulmi, Muhammad Kamran, Amanda Karski, Karla I Vargas, Slobodan Lazarevic, Mohammad Uzair Zaman, Gautham Lakshmipriya Vetrivendan, S M Iram Shahzed, Archana Das, Vikas Yadav, Sophia B Bellegarde, and Ashraf Ullah. Pathophysiology, diagnosis, and management of takayasu arteritis: a review of current advances. Cureus, Jul 2023. URL: https://doi.org/10.7759/cureus.42667, doi:10.7759/cureus.42667. This article has 57 citations.