Fibromuscular dysplasia is an idiopathic, systemic, non-inflammatory and non-atherosclerotic arterial disease that affects medium-sized muscular arteries. It is most often recognized in renal and cerebrovascular arteries and may cause focal or multifocal stenosis, hypertension, aneurysm, dissection, tortuosity, stroke, or myocardial infarction.
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name: Fibromuscular Dysplasia
creation_date: "2026-05-04T22:23:50Z"
updated_date: "2026-05-05T00:00:39Z"
description: >-
Fibromuscular dysplasia is an idiopathic, systemic, non-inflammatory and
non-atherosclerotic arterial disease that affects medium-sized muscular
arteries. It is most often recognized in renal and cerebrovascular arteries
and may cause focal or multifocal stenosis, hypertension, aneurysm,
dissection, tortuosity, stroke, or myocardial infarction.
category: Complex
disease_term:
preferred_term: fibromuscular dysplasia
term:
id: MONDO:0006761
label: fibromuscular dysplasia
parents:
- Vascular disorder
has_subtypes:
- name: Multifocal
display_name: Multifocal FMD
description: Multifocal FMD is characterized angiographically by alternating stenoses and dilatations that produce a string-of-beads appearance.
- name: Focal
display_name: Focal FMD
description: Focal FMD is characterized by a single focal or tubular arterial stenosis.
pathophysiology:
- name: Systemic non-atherosclerotic arteriopathy
description: >-
FMD involves abnormal arterial wall architecture in medium-sized muscular
arteries, with fibrosis, cellular hyperplasia, and remodeling that can
produce focal or multifocal stenoses and expanded vascular phenotypes such
as aneurysm, dissection, and tortuosity.
cell_types:
- preferred_term: vascular smooth muscle cell
term:
id: CL:0000359
label: vascular associated smooth muscle cell
- preferred_term: endothelial cell
term:
id: CL:0000115
label: endothelial cell
- preferred_term: fibroblast
term:
id: CL:0000057
label: fibroblast
biological_processes:
- preferred_term: extracellular matrix organization
modifier: ABNORMAL
term:
id: GO:0030198
label: extracellular matrix organization
evidence:
- reference: DOI:10.1093/cvr/cvab086
reference_title: Current progress in clinical, molecular, and genetic aspects of adult fibromuscular dysplasia
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Extensive studies have correlated the arterial lesions of FMD to histopathological findings of arterial fibrosis, cellular hyperplasia, and distortion of the abnormal architecture of the arterial wall.
explanation: This review links FMD lesions to abnormal arterial wall structure and remodeling.
- name: Polygenic vascular contraction and arterial regulatory biology
description: >-
Common-variant studies support a complex, polygenic contribution involving
arterial regulatory elements and genes related to actin cytoskeleton and
calcium homeostasis, consistent with altered vascular contraction and vessel
wall mechanics.
cell_types:
- preferred_term: vascular smooth muscle cell
term:
id: CL:0000359
label: vascular associated smooth muscle cell
- preferred_term: endothelial cell
term:
id: CL:0000115
label: endothelial cell
- preferred_term: fibroblast
term:
id: CL:0000057
label: fibroblast
biological_processes:
- preferred_term: actin cytoskeleton organization
modifier: ABNORMAL
term:
id: GO:0030036
label: actin cytoskeleton organization
- preferred_term: calcium ion homeostasis
modifier: ABNORMAL
term:
id: GO:0055074
label: calcium ion homeostasis
evidence:
- reference: DOI:10.1038/s41467-021-26174-2
reference_title: Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases
supports: SUPPORT
evidence_source: COMPUTATIONAL
snippet: >-
Target genes are broadly involved in mechanisms related to actin cytoskeleton and intracellular calcium homeostasis, central to vascular contraction.
explanation: GWAS and transcriptome-wide analyses support arterial regulatory mechanisms relevant to vessel contraction.
phenotypes:
- category: Cardiovascular
name: Arterial stenosis
diagnostic: true
description: >-
Focal or multifocal arterial stenoses, often in renal and cerebrovascular
arteries, are core diagnostic manifestations.
phenotype_term:
preferred_term: Arterial stenosis
term:
id: HP:0100545
label: Arterial stenosis
evidence:
- reference: DOI:10.1093/cvr/cvab086
reference_title: Current progress in clinical, molecular, and genetic aspects of adult fibromuscular dysplasia
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
However, in the absence of a string-of-beads or focal stenosis, these lesions do not suffice to establish the diagnosis.
explanation: The review identifies focal stenosis and string-of-beads morphology as diagnostic vascular findings.
- category: Cardiovascular
name: Hypertension
description: Renal artery involvement can cause renovascular hypertension.
phenotype_term:
preferred_term: Hypertension
term:
id: HP:0000822
label: Hypertension
evidence:
- reference: DOI:10.1038/s41467-021-26174-2
reference_title: Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Fibromuscular dysplasia (FMD) is an arteriopathy associated with hypertension, stroke and myocardial infarction, affecting mostly women.
explanation: This cohort genetics study states hypertension as a clinical association of FMD.
- category: Cardiovascular
name: Arterial aneurysm
description: FMD-associated arterial disease extends beyond stenosis to aneurysms across arterial beds.
phenotype_term:
preferred_term: Arterial aneurysm
term:
id: HP:0002617
label: Vascular dilatation
evidence:
- reference: DOI:10.1093/cvr/cvab086
reference_title: Current progress in clinical, molecular, and genetic aspects of adult fibromuscular dysplasia
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
More recently, the vascular phenotype of lesions associated with FMD has been expanded to include arterial aneurysms, dissections, and tortuosity.
explanation: This directly supports aneurysm as part of the expanded FMD vascular phenotype.
- category: Cardiovascular
name: Arterial tortuosity
description: FMD-associated arterial disease can include tortuosity across affected arterial beds.
phenotype_term:
preferred_term: Arterial tortuosity
term:
id: HP:0005116
label: Arterial tortuosity
evidence:
- reference: DOI:10.1093/cvr/cvab086
reference_title: Current progress in clinical, molecular, and genetic aspects of adult fibromuscular dysplasia
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
More recently, the vascular phenotype of lesions associated with FMD has been expanded to include arterial aneurysms, dissections, and tortuosity.
explanation: This directly supports tortuosity as part of the expanded FMD vascular phenotype.
- category: Cardiovascular
name: Arterial dissection
description: >-
Arterial dissection is a common complication and can occur in multiple
vascular beds, including renal, carotid, visceral, and coronary arteries.
phenotype_term:
preferred_term: Arterial dissection
term:
id: HP:0005294
label: Arterial dissection
evidence:
- reference: DOI:10.1093/ajh/hpad056
reference_title: From Fibromuscular Dysplasia to Arterial Dissection and Back
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Fifteen to 25% of patients with FMD present with arterial dissection in at least one arterial bed.
explanation: This review quantifies arterial dissection frequency among FMD patients.
- category: Neurological
name: Headache
description: Headache is among the most common presenting symptoms in registry cohorts.
phenotype_term:
preferred_term: Headache
term:
id: HP:0002315
label: Headache
evidence:
- reference: PMID:22615343
reference_title: "The United States Registry for Fibromuscular Dysplasia: results in the first 447 patients."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Hypertension, headache, and pulsatile tinnitus were the most common presenting symptoms of the disease.
explanation: This registry abstract identifies headache as one of the most common presenting symptoms.
- category: Neurological
name: Pulsatile tinnitus
description: Pulsatile tinnitus is a common neurovascular symptom in FMD and is associated with extracranial carotid involvement.
phenotype_term:
preferred_term: Pulsatile tinnitus
term:
id: HP:0008629
label: Pulsatile tinnitus
evidence:
- reference: PMID:34459232
reference_title: "Association of Fibromuscular Dysplasia and Pulsatile Tinnitus: A Report of the US Registry for Fibromuscular Dysplasia."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Of 2613 patients with FMD who were included in the analysis, 972 (37.2%) reported PT.
explanation: This registry analysis quantifies pulsatile tinnitus in FMD.
- category: Neurological
name: Transient ischemic attack
description: TIA can occur with cerebrovascular FMD involving carotid or vertebral arteries.
phenotype_term:
preferred_term: Transient ischemic attack
term:
id: HP:0002326
label: Transient ischemic attack
evidence:
- reference: PMID:22615343
reference_title: "The United States Registry for Fibromuscular Dysplasia: results in the first 447 patients."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
A past or presenting history of vascular events were common: 19.2% of patients had a transient ischemic attack or stroke, 19.7% had experienced arterial dissection(s), and 17% of patients had an aneurysm(s).
explanation: This registry abstract supports TIA as a vascular event in FMD.
- category: Neurological
name: Stroke
description: Stroke can occur in cerebrovascular FMD and in registry cohorts with serious vascular events.
phenotype_term:
preferred_term: Stroke
term:
id: HP:0001297
label: Stroke
evidence:
- reference: PMID:22615343
reference_title: "The United States Registry for Fibromuscular Dysplasia: results in the first 447 patients."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
A past or presenting history of vascular events were common: 19.2% of patients had a transient ischemic attack or stroke, 19.7% had experienced arterial dissection(s), and 17% of patients had an aneurysm(s).
explanation: This registry abstract supports stroke as a vascular event in FMD.
- category: Neurological
name: Intracranial aneurysm
description: Intracranial aneurysm is a recognized cerebrovascular manifestation in the expanded FMD phenotype.
phenotype_term:
preferred_term: Cerebral berry aneurysm
term:
id: HP:0007029
label: Cerebral berry aneurysm
evidence:
- reference: PMID:22615343
reference_title: "The United States Registry for Fibromuscular Dysplasia: results in the first 447 patients."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
A past or presenting history of vascular events were common: 19.2% of patients had a transient ischemic attack or stroke, 19.7% had experienced arterial dissection(s), and 17% of patients had an aneurysm(s).
explanation: This registry abstract supports aneurysms as vascular events in FMD; intracranial aneurysm is represented by the closest locally valid HPO term.
genetic:
- name: Polygenic FMD susceptibility loci
association: Predisposing
presence: Positive
notes: >-
GWAS supports a polygenic component with loci including PHACTR1, LRP1,
ATP2B1, LIMA1, and a transcriptome-wide arterial signal at SLC24A3.
evidence:
- reference: DOI:10.1038/s41467-021-26174-2
reference_title: Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases
supports: SUPPORT
evidence_source: COMPUTATIONAL
snippet: >-
We find an estimate of SNP-based heritability compatible with FMD having a polygenic basis, and report four robustly associated loci (PHACTR1, LRP1, ATP2B1, and LIMA1).
explanation: The GWAS meta-analysis supports polygenic FMD susceptibility and identifies associated loci.
diagnosis:
- name: Vascular imaging and angiographic classification
description: >-
Diagnosis relies on vascular imaging of involved arterial beds and
recognition of focal stenosis or multifocal string-of-beads morphology;
consensus documents include protocols for catheter-based angiography.
diagnosis_term:
preferred_term: magnetic resonance imaging procedure
term:
id: MAXO:0000424
label: magnetic resonance imaging procedure
results: Imaging may show focal stenosis, multifocal string-of-beads changes, aneurysm, dissection, or tortuosity.
evidence:
- reference: DOI:10.1177/1358863X18821816
reference_title: First International Consensus on the diagnosis and management of fibromuscular dysplasia
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
In addition to practical consensus-based clinical recommendations, including a consensus protocol for catheter-based angiography and percutaneous angioplasty for renal FMD, the document also includes the first analysis of the European/International FMD Registry and provides updated data from the US Registry for FMD.
explanation: The international consensus supports standardized diagnostic and management approaches, including angiographic protocols.
treatments:
- name: Percutaneous angioplasty for renal FMD
description: >-
Percutaneous angioplasty is a consensus-supported intervention for selected
renal FMD cases, especially when renovascular hypertension is clinically
significant.
treatment_term:
preferred_term: therapeutic procedure
term:
id: NCIT:C49236
label: Therapeutic Procedure
evidence:
- reference: DOI:10.1177/1358863X18821816
reference_title: First International Consensus on the diagnosis and management of fibromuscular dysplasia
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
In addition to practical consensus-based clinical recommendations, including a consensus protocol for catheter-based angiography and percutaneous angioplasty for renal FMD, the document also includes the first analysis of the European/International FMD Registry and provides updated data from the US Registry for FMD.
explanation: This consensus abstract specifically mentions percutaneous angioplasty for renal FMD.
- name: Antiplatelet therapy for cerebrovascular FMD
description: Antiplatelet agents are used as cornerstone therapy in cerebrovascular FMD.
treatment_term:
preferred_term: Pharmacotherapy
term:
id: NCIT:C15986
label: Pharmacotherapy
therapeutic_agent:
- preferred_term: Aspirin
term:
id: CHEBI:15365
label: acetylsalicylic acid
evidence:
- reference: PMID:15935124
reference_title: Fibromuscular Dysplasia.
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
In patients with cerebrovascular FMD, antiplatelet agents represent the cornerstone of therapy.
explanation: This treatment review supports antiplatelet therapy for cerebrovascular FMD; aspirin is a common representative antiplatelet agent.
- name: Antihypertensive medication after angioplasty when needed
description: Blood pressure management may require antihypertensive medication if renovascular hypertension persists after angioplasty.
treatment_term:
preferred_term: Pharmacotherapy
term:
id: NCIT:C15986
label: Pharmacotherapy
evidence:
- reference: PMID:15935124
reference_title: Fibromuscular Dysplasia.
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
If the blood pressure fails to normalize following angioplasty, the physician should institute antihypertensive medications according to the recommendations of the Joint National Committee on the Prevention, Detection, and Treatment of High Blood Pressure VII.
explanation: This supports antihypertensive medication as part of management when blood pressure remains elevated after angioplasty.
Question: You are an expert researcher providing comprehensive, well-cited information.
Provide detailed information focusing on: 1. Key concepts and definitions with current understanding 2. Recent developments and latest research (prioritize 2023-2024 sources) 3. Current applications and real-world implementations 4. Expert opinions and analysis from authoritative sources 5. Relevant statistics and data from recent studies
Format as a comprehensive research report with proper citations. Include URLs and publication dates where available. Always prioritize recent, authoritative sources and provide specific citations for all major claims.
Please provide a comprehensive research report on Fibromuscular Dysplasia covering all of the disease characteristics listed below. This report will be used to populate a disease knowledge base entry. Be thorough and cite primary literature (PMID preferred) for all claims.
For each section, suggested databases/resources are listed. These are the first places you should search for information on each topic.
Search first: OMIM, Orphanet, ICD-10/ICD-11, MeSH, PubMed
Search first: PubMed, Cochrane Library, UpToDate, clinical guidelines, ClinVar, ClinGen, GWAS Catalog, PheGenI, CTD, CDC, WHO, epidemiological databases
Search first: PubMed, Cochrane Library, clinical trial databases, GWAS Catalog, gnomAD, WHO, CDC, nutrition databases
Search first: CTD, PubMed, PheGenI, GxE databases
Search first: HPO (Human Phenotype Ontology), OMIM, Orphanet, PubMed, clinicaltrials.gov, MedDRA, SNOMED CT, DECIPHER, LOINC
For each phenotype, provide: - Phenotype type: symptoms, clinical signs, physical manifestations, behavioral changes, or laboratory abnormalities
For symptoms/signs: HPO, OMIM, Orphanet, PubMed For behavioral changes: HPO, DSM, RDoC (Research Domain Criteria), PubMed For laboratory abnormalities: LOINC, SNOMED CT, LabTests Online, PubMed - Phenotype characteristics: Search first: OMIM, Orphanet, HPO, PubMed - Age of symptom onset (neonatal, childhood, adult-onset, late-onset) - Symptom severity (mild, moderate, severe, variable) - Symptom progression (stable, progressive, episodic, fluctuating) - Frequency among affected individuals (percentage or qualitative) - Quality of life impact: Effects on daily functioning and well-being (per-phenotype when possible) Search first: EQ-5D database, SF-36, WHO QOL databases, PubMed - Suggest HPO (Human Phenotype Ontology) terms for each phenotype
Search first: OMIM, ClinVar, HGMD, Ensembl, NCBI Gene
Search first: ENCODE, Roadmap Epigenomics, MethBase, DiseaseMeth
Search first: DECIPHER, ClinVar, ECARUCA, UCSC Genome Browser
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Search first: ImmPort, Immunome Database, IEDB, Gene Ontology
Search first: PubMed, Gene Ontology, Reactome
Search first: BRENDA, UniProt, KEGG, OMIM, PubMed
Search first: ENCODE, Roadmap Epigenomics, MethBase, DiseaseMeth
For each mechanism, describe: - The causal chain from initial trigger to clinical manifestation - Which mechanisms are upstream vs downstream - What cell types and biological processes are involved - Suggest GO terms for biological processes and CL terms for cell types
Search first: Uberon, FMA (Foundational Model of Anatomy), OMIM, HPO, ICD-11, MeSH, SNOMED CT
Search first: Uberon, Human Protein Atlas, Cell Ontology, Human Cell Atlas, CellMarker, PanglaoDB
Search first: Gene Ontology (Cellular Component), UniProt, Human Protein Atlas
Search first: OMIM, Orphanet, HPO, PubMed
Search first: Disease registries, longitudinal cohort databases, natural history studies, PubMed, Orphanet, OMIM
Search first: Orphanet, CDC, WHO, GBD (Global Burden of Disease), national registries, SEER, disease registries
Search first: GTR (Genetic Testing Registry), GeneReviews, ClinGen
For each treatment, suggest MAXO (Medical Action Ontology) terms where applicable.
Search first: CDC vaccine schedules, WHO immunization, FDA vaccine database
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Search first: NCBI Gene
Structure your response as a comprehensive narrative organized by the sections above. For each section, provide: - Factual content with specific details (numbers, percentages, gene names, variant nomenclature) - Ontology term suggestions (HPO, GO, CL, UBERON, CHEBI, MAXO, MONDO) where applicable - Evidence citations with PMIDs - Direct quotes from abstracts to support key claims - Clear indication when information is not available or not applicable for this disease
This report will be used to populate a disease knowledge base entry with: - Pathophysiology descriptions with causal chains - Gene/protein annotations (HGNC, GO terms) - Phenotype associations (HP terms) with frequencies - Cell type involvement (CL terms) - Anatomical locations (UBERON terms) - Chemical entities (CHEBI terms) - Treatment annotations (MAXO terms) - Evidence items with PMIDs and exact abstract quotes - Epidemiology, prognosis, diagnostic, and prevention information - Animal model descriptions with phenotype recapitulation details
Fibromuscular dysplasia (FMD) is an idiopathic, systemic, non-inflammatory, non-atherosclerotic arteriopathy that affects small-to-medium muscular arteries and is characterized by angiographic focal or multifocal stenotic lesions; it is associated with hypertension and major cerebrovascular/cardiovascular events and commonly co-occurs with aneurysm, dissection, and tortuosity across multiple vascular beds. Consensus guidance emphasizes imaging-confirmed diagnosis (≥1 focal or multifocal lesion), at least one-time brain-to-pelvis vascular imaging to map multisite disease and screen for aneurysm/dissection, and medical management focusing on antiplatelet therapy (aspirin 75–100 mg/day when not contraindicated) and blood pressure control. Recent genetic studies support a polygenic basis with reproducible common risk loci (PHACTR1, LRP1, ATP2B1, LIMA1; plus SLC24A3 by TWAS), and 2024 systems-genetics work proposes network-level “key driver” genes (e.g., UBR4) with functional testing in fibroblasts and vascular smooth muscle cell models. (gornik2019firstinternationalconsensus pages 9-10, persu2022currentprogressin pages 2-3, georges2021geneticinvestigationof pages 1-2, d’escamard2024integrativegeneregulatory pages 1-13)
A foundational definition used in recent reviews describes FMD as “an idiopathic, segmental, non-atherosclerotic and non-inflammatory disease of the musculature of arterial walls, leading to stenosis of small and medium-sized arteries” and causing complications including hypertension, stroke, dissections, aneurysms, and ischemia in multiple vascular territories. (monaco2018genomicsoffibromuscular pages 1-3)
The 2019 First International Consensus describes FMD as a non-atherosclerotic arterial disease with abnormal cellular proliferation and distorted arterial wall architecture and recommends classifying lesions by angiographic appearance as focal or multifocal. (gornik2019firstinternationalconsensus pages 2-4)
The retrieved evidence set contains limited explicit ontology/coding identifiers. It does include a MONDO identifier for multifocal FMD from OpenTargets-derived content, but did not include MeSH/ICD/OMIM/Orphanet identifiers in the extracted full text. (monaco2018genomicsoffibromuscular pages 1-3)
| Identifier type | Value | Synonyms / alternate names supported by provided evidence | Evidence / citation IDs |
|---|---|---|---|
| Disease name | Fibromuscular dysplasia | FMD; non-atherosclerotic, non-inflammatory arterial disease / arteriopathy | (huart2023fromfibromusculardysplasia pages 1-2, gornik2019firstinternationalconsensus pages 2-4) |
| MONDO (general disease) | not found in provided sources | Fibromuscular dysplasia | (gornik2019firstinternationalconsensus pages 2-4) |
| MONDO (specific subtype) | MONDO_0859151 | Fibromuscular dysplasia, multifocal | (monaco2018genomicsoffibromuscular pages 1-3) |
| MeSH | not found in provided sources | FMD | (gornik2019firstinternationalconsensus pages 2-4) |
| ICD-10 | not found in provided sources | FMD | (gornik2019firstinternationalconsensus pages 2-4) |
| ICD-11 | not found in provided sources | FMD | (gornik2019firstinternationalconsensus pages 2-4) |
| Orphanet | not found in provided sources | FMD | (gornik2019firstinternationalconsensus pages 2-4) |
| OMIM | not found in provided sources | FMD | (gornik2019firstinternationalconsensus pages 2-4) |
| Angiographic subtype | Multifocal FMD | “string of beads”; classic multifocal phenotype; corresponds roughly to medial histology / medial fibroplasia in older terminology | (huart2023fromfibromusculardysplasia pages 1-2, persu2022currentprogressin pages 2-3, gornik2019firstinternationalconsensus media 968288f3) |
| Angiographic subtype | Focal FMD | focal stenosis; tubular or focal stenosis; corresponds roughly to intimal histology / intimal fibroplasia in older terminology | (huart2023fromfibromusculardysplasia pages 1-2, persu2022currentprogressin pages 2-3, gornik2019firstinternationalconsensus media 968288f3) |
| Historical histopathology term | Medial fibroplasia | older histopathologic terminology linked to multifocal disease pattern | (huart2023fromfibromusculardysplasia pages 1-2, persu2022currentprogressin pages 2-3) |
| Historical histopathology term | Intimal fibroplasia | older histopathologic terminology linked to focal disease pattern | (huart2023fromfibromusculardysplasia pages 1-2, persu2022currentprogressin pages 2-3) |
| Related lesion / subtype discussed in provided evidence | Carotid web | atypical fibromuscular dysplasia subtype; intimal FMD; carotid web | (zedde2025fibromusculardysplasiaand pages 17-17) |
Table: This table summarizes disease identifiers and supported terminology for fibromuscular dysplasia using only the evidence available in the retrieved sources. It highlights where identifiers were not present in the provided evidence and distinguishes current angiographic subtypes from older histopathologic terms.
Notes on missing identifiers: ICD-10/ICD-11, MeSH, OMIM, and Orphanet identifiers were not present in the provided full-text evidence snippets; thus they cannot be asserted here without additional targeted database queries beyond the current tool state. (gornik2019firstinternationalconsensus pages 2-4)
Consensus and review literature consistently uses: fibromuscular dysplasia, FMD, and angiographic subtypes multifocal FMD (“string of beads”) and focal FMD. (huart2023fromfibromusculardysplasia pages 1-2, persu2022currentprogressin pages 2-3)
A related lesion discussed in neurologic literature is an arterial diaphragm/web (including carotid bulb diaphragm), described as an endoluminal web with intimal fibroplasia; this overlaps conceptually with “carotid web” described as intimal-type FMD in other sources, though carotid web-specific literature in this retrieval set is largely outside 2023–2024 primary FMD guidelines. (touze2019fibromusculardysplasiaand pages 14-18, zedde2025fibromusculardysplasiaand pages 17-17)
Most epidemiology/phenotype statements below come from aggregated disease-level resources (international consensus and major registries) rather than individual-patient EHR. Example: the 2019 consensus reports US Registry and European/International Registry tables. (gornik2019firstinternationalconsensus pages 7-9)
FMD is considered idiopathic with multifactorial contributions. A high-quality 2022 review states that “a variety of genetic, mechanical, and hormonal factors play a role in the pathogenesis of FMD,” and that it is “probable” that FMD involves a combination of genetic and environmental factors. (persu2022currentprogressin pages 2-3)
Common-variant susceptibility (polygenic): * PHACTR1 locus (rs9349379) was the first genome-wide significant susceptibility locus reported, supporting a “complex genetic pattern of inheritance.” In the 2016 PLoS Genetics study, the authors conclude: “We report the first susceptibility locus for FMD…,” identifying rs9349379 intronic to PHACTR1 with OR 1.39 and P = 7.4×10−10 (multi-cohort total 1,154 cases and 3,895 controls). (kiando2016phactr1isa pages 1-2) * A larger 2021 GWAS meta-analysis (six studies; 1,556 FMD cases and 7,100 controls) reported four robust loci (PHACTR1, LRP1, ATP2B1, LIMA1) and one additional locus by artery TWAS (SLC24A3). It emphasized pathways “related to actin cytoskeleton and intracellular calcium homeostasis, central to vascular contraction.” (georges2021geneticinvestigationof pages 1-2)
Evidence for functional effects and relevant cell types: The 2016 PHACTR1 study detected PHACTR1 expression in endothelium and smooth muscle cells and observed higher expression in rs9349379-A carriers in primary fibroblasts; zebrafish knockdown produced vascular dilation. (kiando2016phactr1isa pages 1-2)
Rare variation / syndromic overlap (in reviews): A 2022 genetics-focused review notes rare variation signals implicating impaired prostacyclin signaling and fibrillar collagens, consistent with a mixed architecture of common and rare genetic contributors (review-level statement; not a single variant assertion in this evidence extract). (georges2022thecomplexgenetic pages 11-13)
A clear, quantified association exists between smoking history and intracranial aneurysm among women with FMD in the US Registry. * In Lather et al. (JAMA Neurology; published online 2017-07-17, print Sep 2017), among women with intracranial aneurysm (IA), 53.8% had a smoking history vs 28.9% without IA (P < .001). (lather2017prevalenceofintracranial pages 5-6, lather2017prevalenceofintracranial pages 1-2)
FMD shows strong female predominance across major registries: in the 2019 consensus tables, women were 94.7% of the US Registry and 83.3% of the European/International Registry. (gornik2019firstinternationalconsensus pages 7-9)
No protective genetic or environmental factors were identified in the retrieved evidence extracts; the genetics literature in this retrieval set focuses on susceptibility. (georges2021geneticinvestigationof pages 1-2)
The retrieved evidence does not provide a formal gene–environment interaction analysis for FMD. However, the strong smoking–intracranial aneurysm association in FMD cohorts and polygenic architecture indicate this is a plausible area for future research. (lather2017prevalenceofintracranial pages 5-6, georges2021geneticinvestigationof pages 1-2)
Angiographic patterns: multifocal (“string of beads”) and focal stenosis. Multifocal FMD predominates in registry data. (gornik2019firstinternationalconsensus pages 9-10)
Non-stenotic vascular manifestations associated with FMD: aneurysm, dissection, tortuosity. In a 2023 review, dissection is reported in ~15–20% and aneurysm in ~20–25% of FMD cases (range across cohorts). (huart2023fromfibromusculardysplasia pages 1-2)
Visual reference (angiographic subtypes): international consensus figure showing multifocal vs focal patterns in renal and carotid arteries. (gornik2019firstinternationalconsensus media 968288f3, gornik2019firstinternationalconsensus media 561bacbf)
A 2019 JAMA Neurology systematic review notes headaches (often migraine) are common—reported “in up to 70% of patients”—and that cerebrovascular FMD is often asymptomatic but can present with TIA/ischemic stroke, SAH, and more rarely intracranial hemorrhage. (touze2019fibromusculardysplasiaand pages 6-11)
In ARCADIA-POL (Hypertension 2020; n=129), symptom frequencies included headaches 38.8%, dizziness 37.2%, pulsatile tinnitus 15.5%, and stroke 9.3%. (warcholcelinska2020geneticstudyof pages 1-2)
Below are common phenotypes with evidence-based frequencies where available and suggested HPO terms.
1) Hypertension (renovascular/secondary) * Frequency: US Registry 67.3%, European/International 73.7%, ARCADIA-POL 87.6%. (gornik2019firstinternationalconsensus pages 7-9, warcholcelinska2020geneticstudyof pages 1-2) * Typical onset: adult (registry mean age at diagnosis 45.8–53.3 years, with younger in ARCADIA-POL). (gornik2019firstinternationalconsensus pages 7-9, warcholcelinska2020geneticstudyof pages 1-2) * Suggested HPO: HP:0000822 (Hypertension)
2) Headache / migraine-type headaches * Frequency: US Registry headache 69.4%; systematic review “up to 70%”; ARCADIA-POL headaches 38.8% (likely different ascertainment). (gornik2019firstinternationalconsensus pages 7-9, touze2019fibromusculardysplasiaand pages 6-11, warcholcelinska2020geneticstudyof pages 1-2) * Suggested HPO: HP:0002315 (Headache); HP:0002076 (Migraine)
3) Pulsatile tinnitus * ARCADIA-POL: 15.5%. (warcholcelinska2020geneticstudyof pages 1-2) * Systematic review notes pulsatile tinnitus among most common presenting symptoms. (touze2019fibromusculardysplasiaand pages 11-14) * Suggested HPO: HP:0030794 (Pulsatile tinnitus)
4) Cervical artery dissection * Systematic review excerpt: carotid and vertebral dissections occur in ~16% and ~5% of all FMD patients, respectively (as summarized in the review). (touze2019fibromusculardysplasiaand pages 11-14) * Suggested HPO: HP:0025517 (Carotid artery dissection); HP:0031113 (Vertebral artery dissection)
5) Intracranial aneurysm * Women with FMD (US Registry, imaged): IA prevalence 12.9% (86/669). (lather2017prevalenceofintracranial pages 3-4, lather2017prevalenceofintracranial pages 1-2) * Suggested HPO: HP:0004944 (Intracranial aneurysm)
6) Stroke / TIA / SAH * Registry rates: stroke 10.1% (US) vs 7.7% (EU); TIA 12.3% (US) vs 3.5% (EU); SAH 2.2% (US) vs 3.5% (EU). (gornik2019firstinternationalconsensus pages 7-9) * Suggested HPO: HP:0001297 (Stroke); HP:0002326 (Transient ischemic attack); HP:0002139 (Subarachnoid hemorrhage)
Direct QoL instruments (e.g., SF-36, EQ-5D, PROMIS) were not captured in the retrieved evidence snippets; however, the high prevalence of chronic symptoms (headache, pulsatile tinnitus) and occurrence of stroke/dissection/aneurysm implies substantial QoL burden. Explicit QoL statistics require additional targeted retrieval. (touze2019fibromusculardysplasiaand pages 6-11)
FMD is generally not a monogenic disorder in most cases; the strongest evidence supports polygenic susceptibility with reproducible common-variant loci rather than single-gene causation in unselected adult cohorts. (georges2021geneticinvestigationof pages 1-2, kiando2016phactr1isa pages 1-2)
Mechanistic interpretation from GWAS: target genes implicated in “actin cytoskeleton and intracellular calcium homeostasis,” consistent with altered vascular smooth muscle contraction biology. (georges2021geneticinvestigationof pages 1-2)
A 2022 genetics review highlights rare variation signals in prostacyclin signaling and fibrillar collagens (review-level synthesis). (georges2022thecomplexgenetic pages 11-13)
No epigenetic signatures or chromosomal abnormalities were identified in the retrieved evidence extracts. (d’escamard2024integrativegeneregulatory pages 1-13)
Smoking: strongly associated with intracranial aneurysm among women with FMD in the US Registry (53.8% with IA vs 28.9% without; P < .001). (lather2017prevalenceofintracranial pages 5-6)
No infectious etiology is supported in the retrieved evidence. (gornik2019firstinternationalconsensus pages 2-4)
Lesion biology: Histopathologic descriptions (fibrosis, cellular hyperplasia, distorted architecture) are summarized in 2022 review literature, with phenotype expansion to aneurysm, dissection, and tortuosity. (persu2022currentprogressin pages 2-3)
Vascular-cell process hypotheses supported by genetics: GWAS/TWAS results implicate genes involved in actin cytoskeleton regulation and intracellular calcium handling, consistent with altered vascular contraction. (georges2021geneticinvestigationof pages 1-2)
Endothelial/smooth muscle involvement: PHACTR1 expression in endothelium and smooth muscle with functional perturbations in zebrafish supports a developmental/structural vascular component. (kiando2016phactr1isa pages 1-2)
d’Escamard et al., Nature Cardiovascular Research (Sep 2024; DOI https://doi.org/10.1038/s44161-024-00533-w) applied integrative gene regulatory network analysis and tested UBR4 as a candidate driver. * In vitro: UBR4 knockdown in immortalized human fibroblasts with RNA-seq/qRT-PCR profiling. (d’escamard2024integrativegeneregulatory pages 1-13) * In vivo: VSMC-targeted Ubr4 knockout (Sm22α-Ubr4KO) with vascular histopathology (elastic lamina structure, collagen content), immune-cell staining, proteomics, and physiological phenotyping. (d’escamard2024integrativegeneregulatory pages 13-24)
Interpretation: This study represents a shift from association-only genetics toward experimentally interrogating gene-network drivers that may influence extracellular matrix/elastic lamina integrity and vascular-wall remodeling in relevant vascular wall cell types (fibroblasts, VSMCs). (d’escamard2024integrativegeneregulatory pages 13-24)
Cell types (CL): * Vascular smooth muscle cell (CL:0000192) * Endothelial cell (CL:0000115) * Fibroblast (CL:0000057) * T cell (for CD3+ infiltration) (CL:0000084) (d’escamard2024integrativegeneregulatory pages 13-24)
Processes (GO Biological Process): * Actin cytoskeleton organization (GO:0030036) (GWAS pathway interpretation) (georges2021geneticinvestigationof pages 1-2) * Calcium ion homeostasis (GO:0055074) (GWAS pathway interpretation) (georges2021geneticinvestigationof pages 1-2) * Extracellular matrix organization (GO:0030198) (histology/collagen findings) (d’escamard2024integrativegeneregulatory pages 13-24) * Regulation of vascular smooth muscle contraction (GO:1904545, close proxy) (georges2021geneticinvestigationof pages 1-2)
Consensus and registry data emphasize renal and cervico-cephalic (extracranial carotid/vertebral) involvement as most common, with multisite disease frequent. (gornik2019firstinternationalconsensus pages 2-4, gornik2019firstinternationalconsensus pages 9-10)
In ARCADIA-POL, vascular beds involved included renal (84.5%), cerebrovascular (26.4%), visceral (15.5%), and lower extremity (11.6%). (warcholcelinska2020geneticstudyof pages 1-2)
Systematic review emphasizes cerebrovascular FMD typically involves the cervical internal carotid and vertebral arteries (high proportions, e.g., carotid involvement ~95% and vertebral involvement ~60–85% in reviewed literature). (touze2019fibromusculardysplasiaand pages 6-11)
Suggested UBERON terms (examples): * Renal artery (UBERON:0001198) * Internal carotid artery (UBERON:0000945) * Vertebral artery (UBERON:0001639) * Intracranial artery (UBERON:0000946, generic) (touze2019fibromusculardysplasiaand pages 6-11)
FMD is a disease of the arterial wall involving smooth muscle and connective tissue layers, with network/mechanistic data implicating vascular smooth muscle cells and fibroblasts and evidence of immune-cell infiltration in experimental models. (kiando2016phactr1isa pages 1-2, d’escamard2024integrativegeneregulatory pages 13-24)
Multifocal lesions are typically mid-to-distal in affected arteries (“string-of-beads” pattern), and focal stenosis can occur as a single short/tubular lesion; multifocal and focal may coexist in some patients. (huart2023fromfibromusculardysplasia pages 1-2, touze2019fibromusculardysplasiaand pages 24-30)
Registry mean ages at diagnosis are typically mid-adulthood (US Registry ~53 years; European/International ~46 years), with focal disease often detected earlier (“usually discovered before 30 years of age” in the consensus excerpt). (gornik2019firstinternationalconsensus pages 7-9, gornik2019firstinternationalconsensus pages 9-10)
Longitudinal progression is an active research area; PROFILE (NCT02961868) explicitly measures imaging-confirmed progression over 3 years. (NCT02961868 chunk 1)
Reliable population incidence estimates are not provided in the retrieved evidence. However, prevalence estimates from imaging-screened kidney donor cohorts are cited in reviews (~3% in one genetics paper summary and 3–6% in kidney donors in a genomics review), reflecting detection of clinically silent lesions. (georges2021geneticinvestigationof pages 1-2, monaco2018genomicsoffibromuscular pages 1-3)
Sex ratio: Strong female predominance in registries (US 94.7% women; EU 83.3%; ARCADIA-POL 80.6%). (gornik2019firstinternationalconsensus pages 7-9, warcholcelinska2020geneticstudyof pages 1-2)
Multifocal vs focal distribution: US Registry multifocal 76.0%, focal 2.4%; European/International multifocal 71.9%, focal 28.1%. (gornik2019firstinternationalconsensus pages 9-10)
Familial cases are uncommon (“<5%” in multiple sources). (kiando2016phactr1isa pages 1-2, touze2019fibromusculardysplasiaand pages 6-11)
A key diagnostic principle is that at least one multifocal or focal arterial lesion must be present to confirm FMD; aneurysm, dissection, or tortuosity alone is not sufficient for diagnosis. (persu2022currentprogressin pages 2-3)
Consensus documents emphasize excluding atherosclerosis, inflammatory vasculopathies, arterial spasm, and inherited arteriopathies that can mimic FMD. (gornik2019firstinternationalconsensus pages 2-4)
No guideline-level recommendation for routine clinical genetic testing is supported in the retrieved excerpts. Genetic testing is used in research registries (blood sampling for genetics/biomarkers in FEIRI and PROFILE). (NCT04804683 chunk 1, NCT02961868 chunk 1)
Major complications include aneurysm and dissection. Registry estimates include: * US Registry: aneurysm 22.7%, dissection 28.1%. (gornik2019firstinternationalconsensus pages 9-10) * European/International Registry: aneurysm 20.0%, dissection 3.4% (likely influenced by ascertainment/imaging differences). (gornik2019firstinternationalconsensus pages 9-10)
For intracranial aneurysm specifically, among women with FMD who had intracranial imaging, prevalence was 12.9%, and aneurysm features suggested potentially higher-risk anatomy/size distributions (e.g., ≥5 mm in 43.2% of patients with aneurysm data). (lather2017prevalenceofintracranial pages 1-2)
Smoking is strongly associated with intracranial aneurysm in women with FMD, suggesting a modifiable risk factor relevant to prognosis for hemorrhagic complications. (lather2017prevalenceofintracranial pages 5-6)
Formal survival/life expectancy statistics were not available in the retrieved evidence extracts. (gornik2019firstinternationalconsensus pages 2-4)
Antiplatelet therapy: The 2019 international consensus states that “in the absence of contraindication, antiplatelet therapy (i.e. aspirin 75–100 mg daily) is reasonable.” (gornik2019firstinternationalconsensus pages 12-14)
A 2019 neurologic systematic review similarly suggests low-dose aspirin (75–100 mg/day) is reasonable to reduce thromboembolic complications in cerebrovascular FMD, and states acute ischemic stroke care should follow standard eligibility for thrombolysis/thrombectomy. (touze2019fibromusculardysplasiaand pages 14-18)
Blood pressure management: The consensus advises managing blood pressure according to standard hypertension guidelines (e.g., ACC/AHA 2017, ESC/ESH), not a unique FMD-specific target in the excerpt. (gornik2019firstinternationalconsensus pages 12-14)
MAXO suggestions: * Antiplatelet therapy (MAXO:0000464, approximate) * Blood pressure control (MAXO:0000933, approximate)
(Exact MAXO IDs are provided as plausible mappings; confirm in MAXO for ontology ingestion.)
Consensus excerpts and neurologic review emphasize endovascular therapy is generally reserved for selected patients, such as symptomatic stenosis despite optimal medical therapy or ruptured intracranial aneurysm; the 2019 consensus includes a protocol for catheter angiography and percutaneous angioplasty for renal FMD (protocol mentioned in abstract). (touze2019fibromusculardysplasiaand pages 1-6, gornik2019firstinternationalconsensus pages 12-14)
MAXO suggestions: * Percutaneous transluminal angioplasty (MAXO:0000503, approximate) * Endovascular procedure for aneurysm repair (MAXO:0000507, approximate)
Key ClinicalTrials.gov studies retrieved include: * NCT04804683 (FEIRI): recruiting registry with biosampling for genetic and biomarker discovery; target enrollment 5,000; 10-year outcome horizon. (NCT04804683 chunk 1) * NCT02961868 (PROFILE): completed prospective imaging follow-up; n=340; primary endpoint “Progression of fibromuscular dysplasia lesions confirmed by imaging” at 3 years; includes genetics (GWAS) and biomarker sampling. (NCT02961868 chunk 1) * NCT02799186 (DISCO): completed; enrollment ~200; systematic CT/MRI angiography screening for FMD in SCAD/coronary hematoma patients plus genetic sampling; includes 1-year morbi-mortality endpoint. (NCT02799186 chunk 1)
No established primary prevention exists due to unclear causation, but smoking avoidance/cessation is supported as likely beneficial given strong association with intracranial aneurysm among women with FMD. (lather2017prevalenceofintracranial pages 5-6)
Consensus recommends one-time brain-to-pelvis imaging (CTA or contrast-enhanced MRA) to detect additional FMD lesions, aneurysms, and dissections, which functions as secondary prevention by identifying lesions requiring surveillance or intervention. (gornik2019firstinternationalconsensus pages 12-14)
Antiplatelet therapy and BP control aim to prevent thromboembolic and hypertensive complications; restriction of endovascular intervention to selected cases reflects risk–benefit balancing. (gornik2019firstinternationalconsensus pages 12-14, touze2019fibromusculardysplasiaand pages 14-18)
No naturally occurring veterinary FMD analogs or cross-species transmission considerations were identified in the retrieved evidence. (gornik2019firstinternationalconsensus pages 2-4)
The strongest model-organism evidence in this retrieval set is from the 2024 UBR4 work and the 2016 PHACTR1 work: * Mouse: VSMC-targeted Ubr4 knockout models with vascular histopathology and proteomics. (d’escamard2024integrativegeneregulatory pages 13-24) * Zebrafish: phactr1 knockdown causing dilated vessels, suggesting subtle impaired vascular development. (kiando2016phactr1isa pages 1-2)
d’Escamard et al. (Sep 2024) integrates gene regulatory networks with functional experiments in fibroblasts and VSMCs, proposing network drivers (e.g., UBR4) that may shape vascular-wall structure (elastic lamina/collagen) and immune-cell infiltration patterns—an example of translation from association genetics to experimentally testable mechanisms. (d’escamard2024integrativegeneregulatory pages 13-24)
In a real-world SCAD cohort (157 patients, 2005–2019), comprehensive head-to-pelvis imaging remained low (10–18%), yet comprehensive imaging yielded much higher FMD detection (63% vs 15% with partial imaging). This demonstrates an implementation gap between consensus-style recommendations for broad vascular evaluation and actual clinical practice, with direct consequences for diagnosing multisite FMD and associated aneurysms. (feldbaum2023managementofspontaneous pages 3-4)
| Cohort / source (year) | N | % women | Mean age at diagnosis | Hypertension % | Headache % | Stroke / TIA / SAH % | Multifocal vs focal % | Multivessel % | Aneurysm % | Dissection % | Key notes |
|---|---|---|---|---|---|---|---|---|---|---|---|
| US Registry for FMD, per First International Consensus (2019) | 1885 analyzed | 94.7% (gornik2019firstinternationalconsensus pages 7-9) | 53.3 ± 12.8 y (gornik2019firstinternationalconsensus pages 7-9) | 67.3% (1253/1862) (gornik2019firstinternationalconsensus pages 7-9) | 69.4% (1274/1837) (gornik2019firstinternationalconsensus pages 7-9) | Stroke 10.1%; TIA 12.3%; SAH 2.2% (gornik2019firstinternationalconsensus pages 7-9) | Multifocal 76.0%; focal 2.4% (gornik2019firstinternationalconsensus pages 9-10) | 55.1% (1038/1885) (gornik2019firstinternationalconsensus pages 9-10) | 22.7% (406/1790) (gornik2019firstinternationalconsensus pages 9-10) | 28.1% (514/1828) (gornik2019firstinternationalconsensus pages 9-10) | Renal lesions found in 66.1% of imaged patients; cerebrovascular lesions in 80.4% of imaged patients; registry data likely influenced by incomplete brain-to-pelvis imaging (gornik2019firstinternationalconsensus pages 9-10) |
| European/International FMD Registry, per First International Consensus (2019) | 609 analyzed | 83.3% (gornik2019firstinternationalconsensus pages 7-9) | 45.8 ± 15.8 y (gornik2019firstinternationalconsensus pages 7-9) | 73.7% (gornik2019firstinternationalconsensus pages 7-9) | Pending / not reported in excerpt (gornik2019firstinternationalconsensus pages 7-9) | Stroke 7.7%; TIA 3.5%; SAH 3.5% (gornik2019firstinternationalconsensus pages 7-9) | Multifocal 71.9%; focal 28.1% (gornik2019firstinternationalconsensus pages 9-10) | 31.2% (190/609) (gornik2019firstinternationalconsensus pages 9-10) | 20.0% (122/609) (gornik2019firstinternationalconsensus pages 9-10) | 3.4% (21/609) (gornik2019firstinternationalconsensus pages 9-10) | Renal lesions in 91.9% of imaged patients; cerebrovascular lesions in 58.6% of imaged patients; lower dissection prevalence than US registry likely reflects ascertainment/imaging differences (gornik2019firstinternationalconsensus pages 9-10, gornik2019firstinternationalconsensus pages 7-9) |
| ARCADIA-POL cohort, Hypertension (2020) | 129 | 80.6% (warcholcelinska2020geneticstudyof pages 1-2) | 42.7 ± 14.2 y (warcholcelinska2020geneticstudyof pages 1-2) | 87.6% (113/129) (warcholcelinska2020geneticstudyof pages 1-2) | 38.8% (warcholcelinska2020geneticstudyof pages 1-2) | Stroke 9.3%; TIA not reported; SAH not reported (warcholcelinska2020geneticstudyof pages 1-2) | Multifocal 85.3%; focal not reported separately (warcholcelinska2020geneticstudyof pages 1-2) | 32.6% multisite disease (≥2 vascular beds) (warcholcelinska2020geneticstudyof pages 1-2) | 24.0% (31/129) (warcholcelinska2020geneticstudyof pages 1-2) | 12.4% (16/129) (warcholcelinska2020geneticstudyof pages 1-2) | Vascular beds involved: renal 84.5%, cerebrovascular 26.4%, visceral 15.5%, lower extremity 11.6%; pulsatile tinnitus 15.5%; median affected beds 1 (IQR 1–2) (warcholcelinska2020geneticstudyof pages 1-2) |
| Women with FMD and intracranial imaging, US Registry / Lather et al. JAMA Neurology (2017) | 669 imaged women | 100% women by study design (lather2017prevalenceofintracranial pages 1-2) | Not reported in excerpt | Not reported for IA subgroup prevalence analysis | Not reported for IA subgroup prevalence analysis | Prior SAH excluded UIA prevalence gives 11.1%; among women with IA, SAH more common (18.0% vs 1.5%) (lather2017prevalenceofintracranial pages 5-6, lather2017prevalenceofintracranial pages 3-4) | Not reported | Not reported | Intracranial aneurysm prevalence 12.9% (86/669; 95% CI 10.3–15.9); unruptured IA 11.1% (66/593) (lather2017prevalenceofintracranial pages 3-4, lather2017prevalenceofintracranial pages 1-2) | Not reported overall; arterial dissection associated in table excerpts (lather2017prevalenceofintracranial pages 3-4) | Smoking strongly associated with IA: 53.8% with IA vs 28.9% without; multiple aneurysms in 30.2%; supports one-time intracranial aneurysm screening in FMD workup (lather2017prevalenceofintracranial pages 5-6, lather2017prevalenceofintracranial pages 1-2, gornik2019firstinternationalconsensus pages 12-14) |
Table: This table summarizes core epidemiology, vascular-bed involvement, and complication frequencies for fibromuscular dysplasia across major registry and cohort sources. It is useful for comparing how phenotype distributions and vascular complications vary by study design and ascertainment.
1) ICD-10/ICD-11, MeSH, OMIM, and Orphanet identifiers were not present in the retrieved full-text evidence; thus these identifiers are flagged as not found rather than inferred. (gornik2019firstinternationalconsensus pages 2-4) 2) Incidence estimates and formal QoL metrics were not available in the retrieved excerpts. 3) Some mechanistic pathway statements (e.g., endothelin/prostacyclin/TGF-β) are referenced in reviews, but the most direct mechanistic evidence in this evidence set comes from GWAS pathway mapping and the 2024 UBR4 systems-genetics study. (georges2021geneticinvestigationof pages 1-2, d’escamard2024integrativegeneregulatory pages 13-24)
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