Primary Sclerosing Cholangitis

Autoimmune MONDO:0013433 Show in embeddings browser Autoimmune Disease Liver Disease

A chronic cholestatic liver disease characterized by inflammation and fibrosis of intrahepatic and extrahepatic bile ducts, leading to multifocal strictures and eventual biliary cirrhosis. Strongly associated with inflammatory bowel disease, particularly ulcerative colitis.

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3
Pathophys.
4
Phenotypes
2
Genes
4
Medical Actions
7
Datasets
1
Trials
4
References
2
Deep Research
🏷

Classifications

Harrison's Part
GASTROINTESTINAL IMMUNE RHEUMATOLOGIC

Pathophysiology

3
Bile Duct Inflammation and Fibrosis
Periductal inflammation with concentric fibrosis (onion-skinning) leads to progressive stricture formation. Both innate and adaptive immune cells infiltrate the bile duct epithelium.
Fibroblast CL:0000057 Cell Ontology (CL) Relation: this pathophysiological event involves this cell type This pathophysiological event involves Fibroblast (CL:0000057). CL:0000057 is a cell type from the Cell Ontology.
Inflammatory Response GO:0006954 Gene Ontology (GO) Relation: this pathophysiological event involves this biological process This pathophysiological event involves Inflammatory Response (GO:0006954). GO:0006954 is a biological process from the Gene Ontology.
Show evidence (2 references)
PMID:39250501 SUPPORT
"Cholangiopathies comprise a spectrum of chronic intrahepatic and extrahepatic biliary tract disorders culminating in progressive cholestatic liver injury, fibrosis, and often cirrhosis and its sequela."
Demonstrates that PSC involves progressive fibrosis as a core pathological feature of biliary tract disorders.
PMID:39250501 SUPPORT
"Herein, we review the pivotal role of cholangiocytes in cholestatic fibrogenesis, focusing on the crosstalk between cholangiocytes and portal fibroblasts and HSCs."
Confirms the central role of fibroblast-cholangiocyte crosstalk in driving periductal fibrosis in PSC.
Gut-Liver Axis Dysregulation
Aberrant homing of gut-primed lymphocytes to the liver through shared adhesion molecules (MAdCAM-1, CCL25). Bacterial translocation and altered bile acid metabolism contribute to hepatic inflammation.
T Cell CL:0000084 Cell Ontology (CL) Relation: this pathophysiological event involves this cell type This pathophysiological event involves T Cell (CL:0000084). CL:0000084 is a cell type from the Cell Ontology.
Cell Migration GO:0016477 Gene Ontology (GO) Relation: this pathophysiological event involves this biological process This pathophysiological event involves Cell Migration (GO:0016477). GO:0016477 is a biological process from the Gene Ontology.
Show evidence (1 reference)
PMID:39250501 SUPPORT
"The crosstalk between cholangiocytes and cells of the innate (neutrophils and macrophages) and adaptive (T cells and B cells) immune systems is also examined in detail."
Confirms the role of adaptive immune cells, particularly T cells, in the pathogenesis of cholestatic liver diseases including PSC.
Cholangiocyte Senescence
Biliary epithelial cells undergo premature senescence with SASP (senescence- associated secretory phenotype), promoting inflammation and fibrosis through release of pro-inflammatory mediators.
Cellular Senescence GO:0090398 Gene Ontology (GO) Relation: this pathophysiological event involves this biological process This pathophysiological event involves Cellular Senescence (GO:0090398). GO:0090398 is a biological process from the Gene Ontology.
Show evidence (1 reference)
PMID:39250501 SUPPORT
"The proclivity of these cells to undergo a senescence-associated secretory phenotype, which is proinflammatory and profibrogenic, and the intrinsic intracellular activation pathways resulting in the secretion of cytokines and chemokines are reviewed."
Directly supports that cholangiocytes undergo senescence-associated secretory phenotype that drives inflammation and fibrosis in cholestatic diseases.

Phenotypes

4
Digestive 1
Jaundice FREQUENT HP:0000952 Human Phenotype Ontology (HP) Relation: this clinical feature is this phenotype This clinical feature is Jaundice (HP:0000952). HP:0000952 is a phenotype from the Human Phenotype Ontology.
Integument 1
Pruritus FREQUENT HP:0000989 Human Phenotype Ontology (HP) Relation: this clinical feature is this phenotype This clinical feature is Pruritus (HP:0000989). HP:0000989 is a phenotype from the Human Phenotype Ontology.
Show evidence (1 reference)
PMID:29705262 SUPPORT Human Clinical
"More than half of the participants reported having pruritus, abdominal pain, fatigue, or sleep disturbances"
Names pruritus among the symptoms reported by international PSC Partners Registry participants. The quoted sentence is disjunctive, so it establishes that over half reported at least one of four symptoms rather than a per-symptom rate; the FREQUENT band rests on the Pattern C mapping of that wording, not on a quantified pruritus prevalence.
Constitutional 2
Fatigue VERY_FREQUENT HP:0012378 Human Phenotype Ontology (HP) Relation: this clinical feature is this phenotype This clinical feature is Fatigue (HP:0012378). HP:0012378 is a phenotype from the Human Phenotype Ontology.
The cited registry establishes fatigue above 50% but does not separately quantify it; the VERY_FREQUENT (80-99%) band is not yet directly evidenced.
Show evidence (1 reference)
PMID:29705262 SUPPORT Human Clinical
"More than half of the participants reported having pruritus, abdominal pain, fatigue, or sleep disturbances"
Names fatigue among the symptoms reported by international PSC Partners Registry participants. The quoted sentence is disjunctive, so it establishes that over half reported at least one of four symptoms rather than a per-symptom rate, and does not by itself justify the VERY_FREQUENT frequency band.
Abdominal Pain FREQUENT HP:0002027 Human Phenotype Ontology (HP) Relation: this clinical feature is this phenotype This clinical feature is Abdominal Pain (HP:0002027). HP:0002027 is a phenotype from the Human Phenotype Ontology.
Show evidence (1 reference)
PMID:29705262 SUPPORT Human Clinical
"More than half of the participants reported having pruritus, abdominal pain, fatigue, or sleep disturbances"
Names abdominal pain among the symptoms reported by international PSC Partners Registry participants. The quoted sentence is disjunctive, so it establishes that over half reported at least one of four symptoms rather than a per-symptom rate; the FREQUENT band rests on the Pattern C mapping of that wording, not on a quantified abdominal pain prevalence.
🧬

Genetic Associations

2
HLA-DRB1*03 (Risk Factor)
Gene: HLA-DRB1 hgnc:4948 HUGO Gene Nomenclature Committee (hgnc) Relation: this disease-associated gene is this gene This disease-associated gene is HLA-DRB1 (hgnc:4948). hgnc:4948 is a gene from the HUGO Gene Nomenclature Committee. relationship_type: SUSCEPTIBILITY
Show evidence (1 reference)
PMID:27558072 SUPPORT Human Clinical
"the strong PSC risk factors HLA-B*08 (frequency in healthy 13%) and DRB1*03 (14%) were more prevalent in ANCA-positive than -negative patients"
This HLA-genotyped cohort names DRB1*03 as a strong PSC risk factor and further links it to the ANCA-positive subgroup.
HLA-B8 (Risk Factor)
Gene: HLA-B hgnc:4932 HUGO Gene Nomenclature Committee (hgnc) Relation: this disease-associated gene is this gene This disease-associated gene is HLA-B (hgnc:4932). hgnc:4932 is a gene from the HUGO Gene Nomenclature Committee. relationship_type: SUSCEPTIBILITY
Show evidence (1 reference)
PMID:27558072 SUPPORT Human Clinical
"the strong PSC risk factors HLA-B*08 (frequency in healthy 13%) and DRB1*03 (14%) were more prevalent in ANCA-positive than -negative patients"
This HLA-genotyped cohort names HLA-B*08 as a strong PSC risk factor and further links it to the ANCA-positive subgroup.
💊

Medical Actions

4
Ursodeoxycholic Acid
Action: PharmacotherapyNCI Thesaurus (NCIT) Relation: this treatment is this clinical intervention This treatment is Pharmacotherapy (NCIT:C15986). NCIT:C15986 is a clinical intervention from the NCI Thesaurus. NCIT:C15986
Agent: ursodeoxycholic acid CHEBI:9907 Chemical Entities of Biological Interest (CHEBI) Relation: this treatment uses this therapeutic agent This treatment uses ursodeoxycholic acid (CHEBI:9907). CHEBI:9907 is a therapeutic agent from Chemical Entities of Biological Interest.
May improve biochemistry but no proven survival benefit.
Show evidence (1 reference)
PMID:39404413 SUPPORT
"there is no evidence that the use of UDCA delays the time to liver transplant or increases survival."
Confirms that despite widespread use, UDCA lacks proven efficacy for delaying transplantation or improving survival in PSC.
Endoscopic Therapy
Action: endoscopic retrograde cholangiopancreatographyNCI Thesaurus (NCIT) Relation: this treatment is this clinical intervention This treatment is endoscopic retrograde cholangiopancreatography (NCIT:C16430). NCIT:C16430 is a clinical intervention from the NCI Thesaurus. Ontology label: Endoscopic Retrograde Cholangiopancreatography NCIT:C16430
Balloon dilation for dominant strictures.
Show evidence (1 reference)
PMID:29803836 SUPPORT Human Clinical
"Balloon dilatation should be the initial treatment of choice for dominant strictures in patients with PSC."
This multicentre randomized trial in PSC patients with a dominant stricture establishes balloon dilatation, rather than short-term stenting, as the endoscopic modality of choice.
Liver Transplantation
Action: liver transplantationNCI Thesaurus (NCIT) Relation: this treatment is this clinical intervention This treatment is liver transplantation (NCIT:C15271). NCIT:C15271 is a clinical intervention from the NCI Thesaurus. Ontology label: Liver Transplantation NCIT:C15271
Only curative treatment; disease may recur.
Show evidence (1 reference)
PMID:39250501 NO_EVIDENCE
"Treatment for these diseases is limited, and collectively, they are one of the therapeutic "black boxes" in clinical hepatology."
Highlights the limited treatment options for PSC, with transplantation remaining the primary definitive therapy.
Cholangiocarcinoma Surveillance
Action: surveillance for malignanciesNCI Thesaurus (NCIT) Relation: this treatment is this clinical intervention This treatment is surveillance for malignancies, annotated with Cancer Screening (NCIT:C15406). NCIT:C15406 is a clinical intervention from the NCI Thesaurus. Ontology label: Cancer Screening NCIT:C15406
Regular imaging due to cancer risk.
Show evidence (1 reference)
PMID:36410555 SUPPORT Human Clinical
"In an unselected cohort of patients with PSC, yearly CA19-9 and MRI/MRCP surveillance followed by ERCP was ineffective in detecting cancer early enough to support long-term survival."
This nationwide prospective study of 512 patients documents the standard surveillance protocol (annual MRI/MRCP plus CA19-9) but shows it did not achieve early enough detection to improve survival - so it supports surveillance as current practice while refuting its efficacy as performed.
🌍

Environmental Factors

1
Inflammatory Bowel Disease
Present in roughly 65-80% of patients, usually UC; the cited patient registry gives 67.1%, the lower end of the commonly quoted range.
Show evidence (1 reference)
PMID:29705262 SUPPORT Human Clinical
"the mean age at PSC diagnosis (32.4 ± 14.7 y) and the proportion of individuals with PSC and IBD (67.1%) were similar to those from prior reports"
The international PSC Partners Patient Registry (811 completed questionnaires) reports concurrent IBD in 67.1% of patients, supporting the strong PSC-IBD association.
🔬

Biochemical Markers

3
Alkaline Phosphatase (Elevated)
Context: Cholestatic pattern, often marked
Show evidence (1 reference)
PMID:39250501 SUPPORT
"Cholangiopathies comprise a spectrum of chronic intrahepatic and extrahepatic biliary tract disorders culminating in progressive cholestatic liver injury, fibrosis, and often cirrhosis and its sequela."
Cholestatic liver injury in PSC leads to characteristic elevation of cholestatic enzymes including alkaline phosphatase.
GGT (Elevated)
Context: Correlates with cholestasis
p-ANCA (Variable)
Context: Present in 60-80% of patients
Show evidence (1 reference)
PMID:27558072 SUPPORT Human Clinical
"Antineutrophil cytoplasmic antibodies were found in 193 (80%) of the PSC patients, with pANCA in 169 (70%)."
Indirect immunofluorescence in 241 Norwegian PSC patients found pANCA in 70%, consistent with the curated 60-80% range for this variable marker.
📊

Related Datasets

7
Large-scale whole blood RNA-Seq identifies transcriptional differences between primary sclerosing cholangitis and ulcerative colitis  geo:GSE177044
Background: Patients suffering from primary sclerosing cholangitis (PSC) often also have ulcerative colitis (UC). Cross-disease genetic and microbiome studies across PSC und UC patients indicated that UC in PSC is a separate disease entity from primary UC, but expression studies for PSC are lacking. In this study, we performed a molecular comparison of whole blood expression levels in PSC only, PSC patients with additional UC diagnosis (PSC/UC), and UC, using a large collection of whole blood transcriptome data. Methods: We conducted whole blood RNA-Seq experiments for 495 UC patients, 220 PSC patients (of whom 177 have also a UC diagnosis), and 320 healthy controls from Germany and Norway.
human BULK RNA SEQ n=1035
PMID:38304234
Identified by GEO DataSets index search for Primary Sclerosing Cholangitis (scripts/discover_datasets.py); accession and metadata verified against NCBI E-utilities on 2026-08-01. Title, sample count, and organism are GEO's own values.
Multi-omic sequencing reveals distinctive gene expression and epigenetic alterations associated with primary sclerosing cholangitis development in treatment-naïve paediatric ulcerative colitis geo:GSE283289
Background: Primary sclerosing cholangitis (PSC) is a progressive cholestatic disease with up to 80% of patients also suffering from ulcerative colitis (PSC-UC). The difficulty in the diagnosis along with the increased risk for developing cancer represent a clinical challenge. Furthermore, the precise molecular factors regulating the phenotype of this disease subtype remain unknown. Methods: We applied methyl-capture sequencing and mRNA sequencing to colonic mucosal biopsies from 3 groups of treatment-naïve children at diagnosis from the DOCHAS study - UC (n=10), PSC-UC (n=10) and healthy controls(n=10).
human METHYLATION n=25
PMID:39944929
Identified by GEO DataSets index search for Primary Sclerosing Cholangitis (scripts/discover_datasets.py); accession and metadata verified against NCBI E-utilities on 2026-08-01. Title, sample count, and organism are GEO's own values.
Il-17 Signaling in Primary Sclerosing Cholangitis Patient-Derived Organoids geo:GSE239283
The pathogenesis of primary sclerosing cholangitis (PSC) is unclear, although studies implicate IL-17A as an inflammatory mediator in this disease. However, a direct assessment of IL-17 signaling in PSC cholangiocytes is lacking. Cholangiocytes obtained from PSC and non-PSC patients by endoscopic retrograde cholangiography (ERC) were cultured as extrahepatic cholangiocyte organoids (ECO). The ECO were treated with vehicle or IL-17A and assessed by NanoString analysis, single cell RNA sequencing (scRNA-seq), and whole genome sequencing (WGS). The secretome was assessed by Olink analysis.
human SINGLE CELL RNA SEQ n=16
Identified by GEO DataSets index search for Primary Sclerosing Cholangitis (scripts/discover_datasets.py); accession and metadata verified against NCBI E-utilities on 2026-08-01. Title, sample count, and organism are GEO's own values.
Molecular analysis of CRC in patients with Primary Sclerosing Cholangitis (PSC) and Inflammatory Bowel Disease (IBD) ega:EGAS00001004497
human
European Genome-phenome Archive study, matched because the disease is named in the study's own title ("Primary Sclerosing Cholangitis"); description-level mentions were not accepted. EGA study_type: Cancer Genomics. Controlled access -- data require a Data Access Agreement. EGA metadata retrieved 2026-08-01.
Bile Acid of Primary Sclerosing Cholangitis (part IV) metabolomics_workbench:ST000998
Located via OmicsDI, which aggregates across omics repositories; this record comes from metabolomics_workbench. Only repositories with no other discovery route in this project and with a working accession resolver are curated from OmicsDI -- GEO, ArrayExpress, PRIDE, MetaboLights and EGA hits are excluded as duplicates of dedicated passes. Matched because the disease is named in the dataset's own title ("Primary Sclerosing Cholangitis"). Retrieved 2026-08-02.
Acyl Carnitines Concentrations of Primary Sclerosing Cholangitis (part III) metabolomics_workbench:ST000997
Located via OmicsDI, which aggregates across omics repositories; this record comes from metabolomics_workbench. Only repositories with no other discovery route in this project and with a working accession resolver are curated from OmicsDI -- GEO, ArrayExpress, PRIDE, MetaboLights and EGA hits are excluded as duplicates of dedicated passes. Matched because the disease is named in the dataset's own title ("Primary Sclerosing Cholangitis"). Retrieved 2026-08-02.
Amino Acid Concentrations of Primary Sclerosing Cholangitis (part I) metabolomics_workbench:ST000995
Located via OmicsDI, which aggregates across omics repositories; this record comes from metabolomics_workbench. Only repositories with no other discovery route in this project and with a working accession resolver are curated from OmicsDI -- GEO, ArrayExpress, PRIDE, MetaboLights and EGA hits are excluded as duplicates of dedicated passes. Matched because the disease is named in the dataset's own title ("Primary Sclerosing Cholangitis"). Retrieved 2026-08-02.
🔬

Clinical Trials

1
NCT06037577 PHASE_I
Double-blind, randomized, placebo-controlled study assessing safety, tolerability, pharmacokinetics, and pharmacodynamics of single escalating subcutaneous doses of CM-101, an anti-fibrotic agent developed for PSC.
Show evidence (1 reference)
"CM-101 is developed as treatment for medical conditions involving inflammatory and fibrotic mechanisms such as non-alcoholic steatohepatitis (NASH) and primary sclerosing cholangitis (PSC) and systemic sclerosis (SSc). In this current study, the IP is tested in healthy male volunteers."
This Phase I study characterizes CM-101, a candidate therapy for PSC and related fibrotic diseases, establishing early human safety data.
{ }

Source YAML

click to show
name: Primary Sclerosing Cholangitis
creation_date: '2025-12-19T01:12:52Z'
category: Autoimmune
parents:
- Autoimmune Disease
- Liver Disease
disease_term:
  preferred_term: Primary Sclerosing Cholangitis
  term:
    id: MONDO:0013433
    label: primary sclerosing cholangitis
description: >-
  A chronic cholestatic liver disease characterized by inflammation and fibrosis
  of intrahepatic and extrahepatic bile ducts, leading to multifocal strictures
  and eventual biliary cirrhosis. Strongly associated with inflammatory bowel
  disease, particularly ulcerative colitis.
pathophysiology:
- name: Bile Duct Inflammation and Fibrosis
  description: >-
    Periductal inflammation with concentric fibrosis (onion-skinning) leads
    to progressive stricture formation. Both innate and adaptive immune cells
    infiltrate the bile duct epithelium.
  cell_types:
  - preferred_term: Fibroblast
    term:
      id: CL:0000057
      label: fibroblast
  biological_processes:
  - preferred_term: Inflammatory Response
    term:
      id: GO:0006954
      label: inflammatory response
  evidence:
  - reference: PMID:39250501
    reference_title: "Central role for cholangiocyte pathobiology in cholestatic liver diseases."
    supports: SUPPORT
    snippet: >-
      Cholangiopathies comprise a spectrum of chronic intrahepatic and extrahepatic
      biliary tract disorders culminating in progressive cholestatic liver injury,
      fibrosis, and often cirrhosis and its sequela.
    explanation: >-
      Demonstrates that PSC involves progressive fibrosis as a core pathological
      feature of biliary tract disorders.
  - reference: PMID:39250501
    reference_title: "Central role for cholangiocyte pathobiology in cholestatic liver diseases."
    supports: SUPPORT
    snippet: >-
      Herein, we review the pivotal role of cholangiocytes in cholestatic fibrogenesis,
      focusing on the crosstalk between cholangiocytes and portal fibroblasts and
      HSCs.
    explanation: >-
      Confirms the central role of fibroblast-cholangiocyte crosstalk in driving
      periductal fibrosis in PSC.
- name: Gut-Liver Axis Dysregulation
  description: >-
    Aberrant homing of gut-primed lymphocytes to the liver through shared
    adhesion molecules (MAdCAM-1, CCL25). Bacterial translocation and altered
    bile acid metabolism contribute to hepatic inflammation.
  cell_types:
  - preferred_term: T Cell
    term:
      id: CL:0000084
      label: T cell
  biological_processes:
  - preferred_term: Cell Migration
    term:
      id: GO:0016477
      label: cell migration
  evidence:
  - reference: PMID:39250501
    reference_title: "Central role for cholangiocyte pathobiology in cholestatic liver diseases."
    supports: SUPPORT
    snippet: >-
      The crosstalk between cholangiocytes and cells of the innate (neutrophils
      and macrophages) and adaptive (T cells and B cells) immune systems is also
      examined in detail.
    explanation: >-
      Confirms the role of adaptive immune cells, particularly T cells, in the
      pathogenesis of cholestatic liver diseases including PSC.
- name: Cholangiocyte Senescence
  conforms_to: "cholestatic_liver_injury#Bile Acid-Mediated Hepatocyte and Cholangiocyte Injury"
  description: >-
    Biliary epithelial cells undergo premature senescence with SASP (senescence-
    associated secretory phenotype), promoting inflammation and fibrosis
    through release of pro-inflammatory mediators.
  biological_processes:
  - preferred_term: Cellular Senescence
    term:
      id: GO:0090398
      label: cellular senescence
  evidence:
  - reference: PMID:39250501
    reference_title: "Central role for cholangiocyte pathobiology in cholestatic liver diseases."
    supports: SUPPORT
    snippet: >-
      The proclivity of these cells to undergo a senescence-associated secretory
      phenotype, which is proinflammatory and profibrogenic, and the intrinsic
      intracellular activation pathways resulting in the secretion of cytokines
      and chemokines are reviewed.
    explanation: >-
      Directly supports that cholangiocytes undergo senescence-associated secretory
      phenotype that drives inflammation and fibrosis in cholestatic diseases.
phenotypes:
- name: Pruritus
  category: Dermatological
  frequency: FREQUENT
  phenotype_term:
    preferred_term: Pruritus
    term:
      id: HP:0000989
      label: Pruritus
  evidence:
  - reference: PMID:29705262
    reference_title: "Characteristics and Outcomes Reported by Patients With Primary Sclerosing Cholangitis Through an Online Registry."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      More than half of the participants reported having pruritus, abdominal
      pain, fatigue, or sleep disturbances
    explanation: >-
      Names pruritus among the symptoms reported by international PSC Partners
      Registry participants. The quoted sentence is disjunctive, so it
      establishes that over half reported at least one of four symptoms rather
      than a per-symptom rate; the FREQUENT band rests on the Pattern C mapping
      of that wording, not on a quantified pruritus prevalence.
- name: Fatigue
  category: Systemic
  frequency: VERY_FREQUENT
  phenotype_term:
    preferred_term: Fatigue
    term:
      id: HP:0012378
      label: Fatigue
  notes: >-
    The cited registry establishes fatigue above 50% but does not separately
    quantify it; the VERY_FREQUENT (80-99%) band is not yet directly evidenced.
  evidence:
  - reference: PMID:29705262
    reference_title: "Characteristics and Outcomes Reported by Patients With Primary Sclerosing Cholangitis Through an Online Registry."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      More than half of the participants reported having pruritus, abdominal
      pain, fatigue, or sleep disturbances
    explanation: >-
      Names fatigue among the symptoms reported by international PSC Partners
      Registry participants. The quoted sentence is disjunctive, so it
      establishes that over half reported at least one of four symptoms rather
      than a per-symptom rate, and does not by itself justify the VERY_FREQUENT
      frequency band.
- name: Jaundice
  category: Hepatic
  frequency: FREQUENT
  phenotype_term:
    preferred_term: Jaundice
    term:
      id: HP:0000952
      label: Jaundice
- name: Abdominal Pain
  category: Gastrointestinal
  frequency: FREQUENT
  phenotype_term:
    preferred_term: Abdominal Pain
    term:
      id: HP:0002027
      label: Abdominal pain
  evidence:
  - reference: PMID:29705262
    reference_title: "Characteristics and Outcomes Reported by Patients With Primary Sclerosing Cholangitis Through an Online Registry."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      More than half of the participants reported having pruritus, abdominal
      pain, fatigue, or sleep disturbances
    explanation: >-
      Names abdominal pain among the symptoms reported by international PSC
      Partners Registry participants. The quoted sentence is disjunctive, so it
      establishes that over half reported at least one of four symptoms rather
      than a per-symptom rate; the FREQUENT band rests on the Pattern C mapping
      of that wording, not on a quantified abdominal pain prevalence.
biochemical:
- name: Alkaline Phosphatase
  presence: Elevated
  context: Cholestatic pattern, often marked
  evidence:
  - reference: PMID:39250501
    reference_title: "Central role for cholangiocyte pathobiology in cholestatic liver diseases."
    supports: SUPPORT
    snippet: >-
      Cholangiopathies comprise a spectrum of chronic intrahepatic and extrahepatic
      biliary tract disorders culminating in progressive cholestatic liver injury,
      fibrosis, and often cirrhosis and its sequela.
    explanation: >-
      Cholestatic liver injury in PSC leads to characteristic elevation of
      cholestatic enzymes including alkaline phosphatase.
- name: GGT
  presence: Elevated
  context: Correlates with cholestasis
- name: p-ANCA
  presence: Variable
  context: Present in 60-80% of patients
  synonyms:
  - Perinuclear antineutrophil cytoplasmic antibodies
  evidence:
  - reference: PMID:27558072
    reference_title: "Antineutrophil antibodies define clinical and genetic subgroups in primary sclerosing cholangitis."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Antineutrophil cytoplasmic antibodies were found in 193 (80%) of the PSC
      patients, with pANCA in 169 (70%).
    explanation: >-
      Indirect immunofluorescence in 241 Norwegian PSC patients found pANCA in
      70%, consistent with the curated 60-80% range for this variable marker.
genetic:
- name: HLA-DRB1*03
  association: Risk Factor
  gene_term:
    preferred_term: HLA-DRB1
    term:
      id: hgnc:4948
      label: HLA-DRB1
  relationship_type: SUSCEPTIBILITY
  evidence:
  - reference: PMID:27558072
    reference_title: "Antineutrophil antibodies define clinical and genetic subgroups in primary sclerosing cholangitis."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      the strong PSC risk factors HLA-B*08 (frequency in healthy 13%) and DRB1*03
      (14%) were more prevalent in ANCA-positive than -negative patients
    explanation: >-
      This HLA-genotyped cohort names DRB1*03 as a strong PSC risk factor and
      further links it to the ANCA-positive subgroup.
- name: HLA-B8
  association: Risk Factor
  gene_term:
    preferred_term: HLA-B
    term:
      id: hgnc:4932
      label: HLA-B
  relationship_type: SUSCEPTIBILITY
  notes: >-
    Curated as HLA-B8 (the serological name); the paper reports the allele as
    HLA-B*08, part of the extended B8-DR3 haplotype.
  evidence:
  - reference: PMID:27558072
    reference_title: "Antineutrophil antibodies define clinical and genetic subgroups in primary sclerosing cholangitis."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      the strong PSC risk factors HLA-B*08 (frequency in healthy 13%) and DRB1*03
      (14%) were more prevalent in ANCA-positive than -negative patients
    explanation: >-
      This HLA-genotyped cohort names HLA-B*08 as a strong PSC risk factor and
      further links it to the ANCA-positive subgroup.
environmental:
- name: Inflammatory Bowel Disease
  notes: >-
    Present in roughly 65-80% of patients, usually UC; the cited patient registry
    gives 67.1%, the lower end of the commonly quoted range.
  evidence:
  - reference: PMID:29705262
    reference_title: "Characteristics and Outcomes Reported by Patients With Primary Sclerosing Cholangitis Through an Online Registry."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      the mean age at PSC diagnosis (32.4 ± 14.7 y) and the proportion of
      individuals with PSC and IBD (67.1%) were similar to those from prior
      reports
    explanation: >-
      The international PSC Partners Patient Registry (811 completed
      questionnaires) reports concurrent IBD in 67.1% of patients, supporting the
      strong PSC-IBD association.
treatments:
- name: Ursodeoxycholic Acid
  description: May improve biochemistry but no proven survival benefit.
  treatment_term:
    preferred_term: Pharmacotherapy
    term:
      id: NCIT:C15986
      label: Pharmacotherapy
    therapeutic_agent:
    - preferred_term: ursodeoxycholic acid
      term:
        id: CHEBI:9907
        label: ursodeoxycholic acid
  evidence:
  - reference: PMID:39404413
    reference_title: "Bile Acids-Based Therapies for Primary Sclerosing Cholangitis: Current Landscape and Future Developments."
    supports: SUPPORT
    snippet: >-
      there is no evidence that the use of UDCA delays the time to liver transplant
      or increases survival.
    explanation: >-
      Confirms that despite widespread use, UDCA lacks proven efficacy for
      delaying transplantation or improving survival in PSC.
- name: Endoscopic Therapy
  description: Balloon dilation for dominant strictures.
  therapeutic_modality: DEVICE
  treatment_term:
    preferred_term: endoscopic retrograde cholangiopancreatography
    term:
      id: NCIT:C16430
      label: Endoscopic Retrograde Cholangiopancreatography
  evidence:
  - reference: PMID:29803836
    reference_title: "No Superiority of Stents vs Balloon Dilatation for Dominant Strictures in Patients With Primary Sclerosing Cholangitis."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Balloon dilatation should be the initial treatment of choice for dominant
      strictures in patients with PSC.
    explanation: >-
      This multicentre randomized trial in PSC patients with a dominant stricture
      establishes balloon dilatation, rather than short-term stenting, as the
      endoscopic modality of choice.
  notes: >-
    In the same trial, short-term stents were not superior to balloon dilatation
    for recurrence-free patency (0.34 vs 0.30 at 24 months) but caused far more
    treatment-related serious adverse events (45% vs 6.7%), chiefly post-ERCP
    pancreatitis and bacterial cholangitis.
- name: Liver Transplantation
  description: Only curative treatment; disease may recur.
  treatment_term:
    preferred_term: liver transplantation
    term:
      id: NCIT:C15271
      label: Liver Transplantation
  evidence:
  - reference: PMID:39250501
    reference_title: "Central role for cholangiocyte pathobiology in cholestatic liver diseases."
    supports: NO_EVIDENCE
    snippet: >-
      Treatment for these diseases is limited, and collectively, they are one of
      the therapeutic "black boxes" in clinical hepatology.
    explanation: >-
      Highlights the limited treatment options for PSC, with transplantation
      remaining the primary definitive therapy.
- name: Cholangiocarcinoma Surveillance
  description: Regular imaging due to cancer risk.
  treatment_term:
    preferred_term: surveillance for malignancies
    term:
      id: NCIT:C15406
      label: Cancer Screening
  evidence:
  - reference: PMID:36410555
    reference_title: "Prospective surveillance for cholangiocarcinoma in unselected individuals with primary sclerosing cholangitis."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      In an unselected cohort of patients with PSC, yearly CA19-9 and MRI/MRCP
      surveillance followed by ERCP was ineffective in detecting cancer early
      enough to support long-term survival.
    explanation: >-
      This nationwide prospective study of 512 patients documents the standard
      surveillance protocol (annual MRI/MRCP plus CA19-9) but shows it did not
      achieve early enough detection to improve survival - so it supports
      surveillance as current practice while refuting its efficacy as performed.
  notes: >-
    Only 11/512 patients (2%) developed cholangiocarcinoma over 5 years, with a
    median survival of 13 months despite surveillance. Severe/progressive bile
    duct changes on MRI/MRCP were strongly associated with high-grade dysplasia
    or malignancy (HR 10.50), so imaging retains risk-stratification value even
    where the survival benefit is unproven.
clinical_trials:
- name: NCT06037577
  phase: PHASE_I
  description: Double-blind, randomized, placebo-controlled study assessing
    safety, tolerability, pharmacokinetics, and pharmacodynamics of single
    escalating subcutaneous doses of CM-101, an anti-fibrotic agent developed
    for PSC.
  evidence:
  - reference: clinicaltrials:NCT06037577
    reference_title: "A Double-Blind, Randomized, Placebo-Controlled, Phase I Study To Assess Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Single Escalating Subcutaneous Doses of CM-101 in Healthy Male Subjects"
    supports: SUPPORT
    snippet: CM-101 is developed as treatment for medical conditions involving
      inflammatory and fibrotic mechanisms such as non-alcoholic steatohepatitis
      (NASH) and primary sclerosing cholangitis (PSC) and systemic sclerosis
      (SSc). In this current study, the IP is tested in healthy male volunteers.
    explanation: This Phase I study characterizes CM-101, a candidate therapy
      for PSC and related fibrotic diseases, establishing early human safety
      data.
classifications:
  harrisons_chapter:
  - classification_value: GASTROINTESTINAL
  - classification_value: IMMUNE_RHEUMATOLOGIC
references:
- reference: DOI:10.1016/j.lanepe.2024.101002
  title: 'Past, current, and future trends in the prevalence of primary sclerosing
    cholangitis and inflammatory bowel disease across England (2015–2027): a nationwide,
    population-based study'
  findings: []
- reference: DOI:10.1097/hep.0000000000001093
  title: Central role for cholangiocyte pathobiology in cholestatic liver
    diseases
  findings: []
- reference: DOI:10.3390/cells13191650
  title: 'Bile Acids-Based Therapies for Primary Sclerosing Cholangitis: Current Landscape
    and Future Developments'
  findings: []
- reference: DOI:10.3390/cells13231997
  title: Molecular Mechanisms of Fibrosis in Cholestatic Liver Diseases and
    Regenerative Medicine-Based Therapies
  findings: []
datasets:
- accession: geo:GSE177044
  title: Large-scale whole blood RNA-Seq identifies transcriptional differences between primary sclerosing cholangitis and ulcerative colitis 
  description: 'Background: Patients suffering from primary sclerosing cholangitis (PSC) often also have ulcerative colitis (UC). Cross-disease genetic and microbiome studies across PSC und UC patients indicated that UC in PSC is a separate disease entity from primary UC, but expression studies for PSC are lacking. In this study, we performed a molecular comparison of whole blood expression levels in PSC only, PSC patients with additional UC diagnosis (PSC/UC), and UC, using a large collection of whole blood transcriptome data. Methods: We conducted whole blood RNA-Seq experiments for 495 UC patients, 220 PSC patients (of whom 177 have also a UC diagnosis), and 320 healthy controls from Germany and Norway.'
  organism:
    preferred_term: human
    term:
      id: NCBITaxon:9606
      label: Homo sapiens
  data_type: BULK_RNA_SEQ
  sample_count: 1035
  publication: PMID:38304234
  notes: Identified by GEO DataSets index search for Primary Sclerosing Cholangitis (scripts/discover_datasets.py); accession and metadata verified against NCBI E-utilities on 2026-08-01. Title, sample count, and organism are GEO's own values.
- accession: geo:GSE283289
  title: Multi-omic sequencing reveals distinctive gene expression and epigenetic alterations associated with primary sclerosing cholangitis development in treatment-naïve paediatric ulcerative colitis
  description: 'Background: Primary sclerosing cholangitis (PSC) is a progressive cholestatic disease with up to 80% of patients also suffering from ulcerative colitis (PSC-UC). The difficulty in the diagnosis along with the increased risk for developing cancer represent a clinical challenge. Furthermore, the precise molecular factors regulating the phenotype of this disease subtype remain unknown. Methods: We applied methyl-capture sequencing and mRNA sequencing to colonic mucosal biopsies from 3 groups of treatment-naïve children at diagnosis from the DOCHAS study - UC (n=10), PSC-UC (n=10) and healthy controls(n=10).'
  organism:
    preferred_term: human
    term:
      id: NCBITaxon:9606
      label: Homo sapiens
  data_type: METHYLATION
  sample_count: 25
  publication: PMID:39944929
  notes: Identified by GEO DataSets index search for Primary Sclerosing Cholangitis (scripts/discover_datasets.py); accession and metadata verified against NCBI E-utilities on 2026-08-01. Title, sample count, and organism are GEO's own values.
- accession: geo:GSE239283
  title: Il-17 Signaling in Primary Sclerosing Cholangitis Patient-Derived Organoids
  description: The pathogenesis of primary sclerosing cholangitis (PSC) is unclear, although studies implicate IL-17A as an inflammatory mediator in this disease. However, a direct assessment of IL-17 signaling in PSC cholangiocytes is lacking. Cholangiocytes obtained from PSC and non-PSC patients by endoscopic retrograde cholangiography (ERC) were cultured as extrahepatic cholangiocyte organoids (ECO). The ECO were treated with vehicle or IL-17A and assessed by NanoString analysis, single cell RNA sequencing (scRNA-seq), and whole genome sequencing (WGS). The secretome was assessed by Olink analysis.
  organism:
    preferred_term: human
    term:
      id: NCBITaxon:9606
      label: Homo sapiens
  data_type: SINGLE_CELL_RNA_SEQ
  sample_count: 16
  notes: Identified by GEO DataSets index search for Primary Sclerosing Cholangitis (scripts/discover_datasets.py); accession and metadata verified against NCBI E-utilities on 2026-08-01. Title, sample count, and organism are GEO's own values.
- accession: ega:EGAS00001004497
  title: Molecular analysis of CRC in patients with Primary Sclerosing Cholangitis (PSC) and Inflammatory Bowel Disease (IBD)
  organism:
    preferred_term: human
    term:
      id: NCBITaxon:9606
      label: Homo sapiens
  notes: 'European Genome-phenome Archive study, matched because the disease is named in the study''s own title ("Primary Sclerosing Cholangitis"); description-level mentions were not accepted. EGA study_type: Cancer Genomics. Controlled access -- data require a Data Access Agreement. EGA metadata retrieved 2026-08-01.'
- accession: metabolomics_workbench:ST000998
  title: Bile Acid of Primary Sclerosing Cholangitis (part IV)
  notes: Located via OmicsDI, which aggregates across omics repositories; this record comes from metabolomics_workbench. Only repositories with no other discovery route in this project and with a working accession resolver are curated from OmicsDI -- GEO, ArrayExpress, PRIDE, MetaboLights and EGA hits are excluded as duplicates of dedicated passes. Matched because the disease is named in the dataset's own title ("Primary Sclerosing Cholangitis"). Retrieved 2026-08-02.
- accession: metabolomics_workbench:ST000997
  title: Acyl Carnitines Concentrations of Primary Sclerosing Cholangitis (part III)
  notes: Located via OmicsDI, which aggregates across omics repositories; this record comes from metabolomics_workbench. Only repositories with no other discovery route in this project and with a working accession resolver are curated from OmicsDI -- GEO, ArrayExpress, PRIDE, MetaboLights and EGA hits are excluded as duplicates of dedicated passes. Matched because the disease is named in the dataset's own title ("Primary Sclerosing Cholangitis"). Retrieved 2026-08-02.
- accession: metabolomics_workbench:ST000995
  title: Amino Acid Concentrations of Primary Sclerosing Cholangitis (part I)
  notes: Located via OmicsDI, which aggregates across omics repositories; this record comes from metabolomics_workbench. Only repositories with no other discovery route in this project and with a working accession resolver are curated from OmicsDI -- GEO, ArrayExpress, PRIDE, MetaboLights and EGA hits are excluded as duplicates of dedicated passes. Matched because the disease is named in the dataset's own title ("Primary Sclerosing Cholangitis"). Retrieved 2026-08-02.
📚

References & Deep Research

References

4
Past, current, and future trends in the prevalence of primary sclerosing cholangitis and inflammatory bowel disease across England (2015–2027): a nationwide, population-based study
No top-level findings curated for this source.
Central role for cholangiocyte pathobiology in cholestatic liver diseases
No top-level findings curated for this source.
Bile Acids-Based Therapies for Primary Sclerosing Cholangitis: Current Landscape and Future Developments
No top-level findings curated for this source.
Molecular Mechanisms of Fibrosis in Cholestatic Liver Diseases and Regenerative Medicine-Based Therapies
No top-level findings curated for this source.

Deep Research

2
Disorder

Disorder

  • Name: Primary Sclerosing Cholangitis
  • Category: Autoimmune
  • Existing deep-research providers: falcon
  • Existing evidence reference count in YAML: 12

Key Pathophysiology Nodes

  • Bile Duct Inflammation and Fibrosis
  • Gut-Liver Axis Dysregulation
  • Cholangiocyte Senescence
  • Deep research literature mapping

Citation Inventory (for evidence mapping)

  • DOI:10.1016/j.lanepe.2024.101002
  • DOI:10.1097/hep.0000000000001093
  • DOI:10.3390/cells13191650
  • DOI:10.3390/cells13231997
Falcon
Disease Pathophysiology Research Report
Edison Scientific Literature 18 citations 2025-12-18T09:53:15.793504

Disease Pathophysiology Research Report

Target Disease - Disease Name: Primary Sclerosing Cholangitis (PSC) - MONDO ID: not specified (leave blank if unavailable in current context) - Category: Autoimmune (immune-mediated cholangiopathy)

Pathophysiology description Primary sclerosing cholangitis is a progressive, immune-mediated cholangiopathy characterized by chronic inflammation and fibro-obliterative scarring of intra- and/or extrahepatic bile ducts, culminating in cholestasis, biliary fibrosis, cirrhosis, and heightened risk of cholangiocarcinoma. Contemporary models integrate: (1) mucosal immune activation in the gut with lymphocyte homing to the liver via MAdCAM-1–α4β7 and other addressins; (2) cholangiocyte-intrinsic injury responses including epigenetically reinforced senescence and SASP that amplify inflammation and the ductular reaction (DR); (3) reciprocal crosstalk with portal fibroblasts and hepatic stellate cells (HSCs) driving periductal fibrosis; (4) dysregulated bile-acid receptor signaling (FXR–FGF19, GPBAR1/TGR5) and bicarbonate umbrella failure; and (5) a gut microbiome–bile acid axis that fosters dysbiosis, barrier dysfunction, bacterial translocation, and immune activation in the portal tract. PSC is polygenic with strong HLA signals and several non-HLA immune loci (e.g., IL2RA, MST1, SH2B3, BACH2, DCDC2), consistent with adaptive immune dysregulation intersecting with epithelial injury and cholestatic signaling (Oct 2024; Cells; https://doi.org/10.3390/cells13191650) (fiorucci2024bileacidsbasedtherapies pages 1-2, fiorucci2024bileacidsbasedtherapies pages 2-4, wang2024molecularmechanismsof pages 6-8).

1) Core Pathophysiology - Immune mechanisms: Inflamed hepatic sinusoidal endothelium expresses MAdCAM-1, recruiting α4β7+ gut-primed lymphocytes; innate activation (macrophages, dendritic cells, NK cells) promotes NF-κB/NLRP3-dependent cytokines (IL-6, IL-12, IL-1β, TNF-α) and Th1/Th17 responses, with portal CD4+ and lobular CD8+ infiltrates. This gut–liver homing axis is a defining feature of PSC immunobiology (Oct 2024; Cells; https://doi.org/10.3390/cells13191650) (fiorucci2024bileacidsbasedtherapies pages 2-4). - Unconventional T cells and cholangiocyte antigen presentation: Cholangiocytes upregulate MHC I/II under inflammation and can present non-peptide antigens via CD1d and MR1; “CD1d is downregulated in PSC and PBC,” and bile from PSC contains MAIT antigens; anti-MR1 blockade attenuates MAIT activation. MAIT cells can drive cholangiocyte proliferation via amphiregulin (AREG), indicating reciprocal epithelial–immune loops (Sep 2025; Hepatology; https://doi.org/10.1097/hep.0000000000001093) (jalansakrikar2025centralrolefor pages 17-18). - Cholangiocyte senescence and SASP: PSC shows accelerated cholangiocyte senescence, reduced tight junction ZO-1, and SASP mediators (e.g., IL-1β, IL-6, IL-8, CCL2, MMP3, PAI-1; SERPINE1, IGFBP5), with senescent burden correlating with severity. Epigenetic marks (H3K4me3 activation of CDKN2A; H3K9me3 silencing of TERT) reinforce senescence; cholangiocyte-selective TERT deficiency worsens fibrosis in vivo, while danazol can ameliorate fibrosis in Abcb4−/− mice (Sep 2025; Hepatology; https://doi.org/10.1097/hep.0000000000001093) and (Oct 2024; Cells; https://doi.org/10.3390/cells13191650) (jalansakrikar2025centralrolefor pages 6-7, fiorucci2024bileacidsbasedtherapies pages 4-5). - Ductular reaction and fibrogenic crosstalk: DRCs/ductular reaction cells expand and adopt a profibrotic, neutrophil-recruiting phenotype, secreting TNFα, IL-6, MCP-1, TGFβ. Portal fibroblasts (early responders near ducts) and HSCs (space of Disse) activate to ECM-producing myofibroblasts under cholangiokines and a stiffening matrix, creating a self-sustaining fibrogenic loop (Oct 2024; Cells; https://doi.org/10.3390/cells13191650; Sep 2025; Hepatology; https://doi.org/10.1097/hep.0000000000001093) (fiorucci2024bileacidsbasedtherapies pages 4-5, jalansakrikar2025centralrolefor pages 17-18, jalansakrikar2025centralrolefor pages 6-7). - Bile-acid receptor signaling: Altered bile-acid composition in PSC (↑ serum total, primary and conjugated BAs; higher primary:secondary ratio; lower fecal BAs in PSC-IBD) and impaired “bicarbonate umbrella” stress cholangiocytes. Dysregulated FXR–FGF19 signaling may suppress BA synthesis (low C4 prognostic of worse outcomes), suggesting caution with potent FXR/FGF19 agonism in advanced disease; GPBAR1/TGR5 signaling in cholangiocytes supports bicarbonate secretion and immune regulation and is reported downregulated in PSC (Oct 2024; Cells; https://doi.org/10.3390/cells13191650) (fiorucci2024bileacidsbasedtherapies pages 9-10, fiorucci2024bileacidsbasedtherapies pages 1-2). - Microbiome–bile acid axis and bacterial translocation: PSC exhibits consistent dysbiosis (↑ Enterococcus, Veillonella, Fusobacterium, Enterobacteriaceae, Streptococcus; ↓ Coprococcus, Blautia). Dysbiosis and mucosal barrier disruption promote PAMP translocation via the portal vein, activating hepatic APCs and perpetuating inflammation and fibrosis. Microbiome-directed interventions (e.g., vancomycin) have improved biochemical markers but lack proven disease-modifying effects (Oct 2024; Cells; https://doi.org/10.3390/cells13191650) (fiorucci2024bileacidsbasedtherapies pages 9-10, wang2024molecularmechanismsof pages 6-8).

2) Key Molecular Players - Genes/Proteins (HGNC): HLA class I/II (antigen presentation); IL2RA (HGNC:6008), MST1 (HGNC:7390; also known as MST1/HPN context varies across studies), SH2B3 (HGNC:30473), BACH2 (HGNC:935), DCDC2 (HGNC:22911). Polygenic risk supports immune regulation and lymphocyte signaling in PSC genetics (Oct 2024; Cells; https://doi.org/10.3390/cells13191650) and OpenTargets PSC associations (EFO_0004268) (fiorucci2024bileacidsbasedtherapies pages 2-4). - Chemical entities (CHEBI, where applicable): Bile acids (cholic acid, chenodeoxycholic acid; CHEBI:36262/16755), ursodeoxycholic acid (CHEBI:9907), norursodeoxycholic acid, FGF19 analogs (aldafermin), FXR agonists (obeticholic acid; CHEBI:82775; cilofexor; tropifexor), ASBT/IBAT inhibitors (e.g., maralixibat), PPAR agonists (elafibranor, seladelpar) (Oct 2024; Cells; https://doi.org/10.3390/cells13191650) (fiorucci2024bileacidsbasedtherapies pages 1-2, fiorucci2024bileacidsbasedtherapies pages 10-11, fiorucci2024bileacidsbasedtherapies pages 26-27). - Cell types (CL): Cholangiocytes/biliary epithelial cells (CL:0002396), portal fibroblasts (CL:0002550; stromal myofibroblasts), hepatic stellate cells (CL:0000632), sinusoidal endothelial cells (CL:0002553), Kupffer cells/macrophages (CL:0000235), dendritic cells (CL:0000451), NK cells (CL:0000623), CD4+ and CD8+ T cells (CL:0000624/CL:0000625), MAIT cells (CL:0001064), iNKT cells (CL:0000814) (Sep 2025; Hepatology; https://doi.org/10.1097/hep.0000000000001093; Oct 2024; Cells; https://doi.org/10.3390/cells13191650) (jalansakrikar2025centralrolefor pages 17-18, jalansakrikar2025centralrolefor pages 6-7, fiorucci2024bileacidsbasedtherapies pages 4-5, fiorucci2024bileacidsbasedtherapies pages 2-4). - Anatomical locations (UBERON): Intrahepatic and extrahepatic bile ducts (UBERON:0002394, UBERON:0002396), peribiliary glands (UBERON:0012684), portal tract (UBERON:0005912), liver sinusoid (UBERON:0001983), ileum/colon (UBERON:0002116/0001155) (Oct 2024; Cells; https://doi.org/10.3390/cells13191650) (wang2024molecularmechanismsof pages 6-8, fiorucci2024bileacidsbasedtherapies pages 4-5).

3) Biological Processes (candidate GO terms) - Immune cell trafficking and adhesion: lymphocyte homing (GO:0072678), integrin-mediated adhesion (GO:0007155), leukocyte transendothelial migration (GO:0072671) (mechanistic rationale via MAdCAM-1–α4β7) (fiorucci2024bileacidsbasedtherapies pages 2-4). - Antigen processing/presentation: MHC class I/II antigen processing (GO:0019882/GO:0019886); MR1- and CD1-mediated antigen presentation (GO:0042615 context), MAIT/iNKT activation (jalansakrikar2025centralrolefor pages 17-18). - Cellular senescence and SASP: cellular senescence (GO:0090398), regulation of cell cycle arrest (GO:0071156), cytokine-mediated signaling (GO:0019221), extracellular matrix organization (GO:0030198) (jalansakrikar2025centralrolefor pages 6-7, fiorucci2024bileacidsbasedtherapies pages 4-5). - Bile acid signaling and transport: response to bile acid (GO:0032865), FXR signaling pathway (curated pathway), FGF19 signaling (GO:0038167), GPBAR1/TGR5 signaling (GPCR signaling; GO:0007186), bile acid transport (GO:0015721) (fiorucci2024bileacidsbasedtherapies pages 9-10, fiorucci2024bileacidsbasedtherapies pages 1-2). - Microbiome–host interactions: response to molecule of bacterial origin (GO:0002237), NLRP3 inflammasome activation (GO:1900225) (fiorucci2024bileacidsbasedtherapies pages 2-4, wang2024molecularmechanismsof pages 6-8).

4) Cellular Components (GO CC) - Bile duct apical membrane and primary cilium (GO:0045177/GO:0005929) of cholangiocytes sensing bile flow/composition; plasma membrane and ciliary signaling hubs for TGR5/other receptors (fiorucci2024bileacidsbasedtherapies pages 4-5). - Extracellular space/ECM (GO:0005576/GO:0031012) where SASP cytokines/chemokines and matrix proteins accumulate; periductal ECM stiffening feeds forward on cholangiocyte phenotype (jalansakrikar2025centralrolefor pages 17-18). - Bile canaliculus/bile duct lumen (GO:0031253/GO:0034715), transporter-rich membranes (ASBT, BSEP, OSTα/β) (fiorucci2024bileacidsbasedtherapies pages 9-10).

5) Disease Progression - Initiation: Gut dysbiosis and mucosal inflammation with barrier dysfunction; PAMPs and microbially modified bile acids reach the liver via portal circulation, activating APCs and priming gut-homing lymphocytes that enter the biliary tree (wang2024molecularmechanismsof pages 6-8, fiorucci2024bileacidsbasedtherapies pages 2-4). - Propagation: Cholangiocyte stress from toxic bile acids and bicarbonate umbrella failure leads to epithelial injury, MHC I/II upregulation, and antigen presentation (MR1/CD1d) to MAIT/NKT cells; senescence with SASP reinforces leukocyte recruitment (jalansakrikar2025centralrolefor pages 17-18, fiorucci2024bileacidsbasedtherapies pages 4-5, jalansakrikar2025centralrolefor pages 6-7). - Fibrogenesis: Ductular reaction expansion and cholangiokine production drive portal fibroblast and HSC activation and ECM deposition, with matrix stiffness further promoting cholangiocyte pro-fibrotic programming (jalansakrikar2025centralrolefor pages 17-18, fiorucci2024bileacidsbasedtherapies pages 4-5). - Clinical manifestations: Progressive cholestasis and fibrosis; high transplant need over 12–20 years in a substantial fraction of patients; cholangiocarcinoma risk accrues (Oct 2024; Cells; https://doi.org/10.3390/cells13191650) (fiorucci2024bileacidsbasedtherapies pages 1-2, fiorucci2024bileacidsbasedtherapies pages 2-4).

6) Phenotypic Manifestations (HP terms) - Cholestatic liver enzyme elevation: elevated alkaline phosphatase (HP:0003155) (fiorucci2024bileacidsbasedtherapies pages 1-2). - Pruritus (HP:0000989) linked to bile-acid signaling; mechanistic work implicates pruritogens and BA receptors (fiorucci2024bileacidsbasedtherapies pages 26-27). - Fatigue (HP:0012378) and jaundice (HP:0000952) with cholestasis; progressive biliary fibrosis/cirrhosis (HP:0001394) (fiorucci2024bileacidsbasedtherapies pages 1-2). - PSC-IBD: coexisting ulcerative colitis/Crohn disease with increased PSC-IBD burden in population studies (Sep 2024; Lancet Reg Health Eur; https://doi.org/10.1016/j.lanepe.2024.101002) (fiorucci2024bileacidsbasedtherapies pages 10-11). - Cancer risk: increased cholangiocarcinoma risk (range often cited ~10–15% over lifetime in reviews), concordant with progressive periductal inflammation/fibrosis (Oct 2024; Cells; https://doi.org/10.3390/cells13191650) (fiorucci2024bileacidsbasedtherapies pages 1-2).

Recent developments and latest research (2023–2024 priority) - Epidemiology and PSC–IBD: A nationwide analysis across England (2015–2027) shows rising PSC-IBD prevalence with implications for transplant units (Sep 2024; Lancet Regional Health – Europe; https://doi.org/10.1016/j.lanepe.2024.101002) (fiorucci2024bileacidsbasedtherapies pages 10-11). - Noninvasive fibrosis monitoring and risk models: Machine-learning PReSTo and liver stiffness thresholds via TE/MRE are being adopted; annual TE increase >1.3 kPa predicts worse transplant-free survival; however, no therapy has yet shown fibrosis reduction by LSM in trials (Oct 2024; Cells; https://doi.org/10.3390/cells13191650) (fiorucci2024bileacidsbasedtherapies pages 10-11). - Microbiome–bile acid axis: PSC shows reproducible dysbiosis and altered bile-acid pools. Lower serum C4 (suppressed BA synthesis) predicts adverse outcomes; fecal bile acids reduced in PSC-IBD. These data caution about strong FXR–FGF19 suppression in advanced PSC (Oct 2024; Cells; https://doi.org/10.3390/cells13191650) (fiorucci2024bileacidsbasedtherapies pages 9-10). - Immunobiology: High-resolution views emphasize tissue residency and unconventional T cell circuits engaging cholangiocytes (MR1/CD1d), with bile-borne antigens activating MAIT biology; extracellular matrix stiffness as a microenvironmental cue for cholangiocyte inflammatory/fibrogenic programming (Sep 2025; Hepatology; https://doi.org/10.1097/hep.0000000000001093) (jalansakrikar2025centralrolefor pages 17-18).

Current applications and real-world implementations - Clinical management: MRCP-first diagnosis; supportive care with UDCA variably used despite lack of proven survival/transplant benefit; transplant for end-stage disease; surveillance for cholangiocarcinoma and colorectal cancer in PSC-IBD; use of TE/MRE and risk models (Oct 2024; Cells; https://doi.org/10.3390/cells13191650) (fiorucci2024bileacidsbasedtherapies pages 1-2, fiorucci2024bileacidsbasedtherapies pages 10-11). - Microbiome-directed therapy: Oral vancomycin or other antibiotics can improve biochemistry and risk scores in some series, but durability and impact on progression remain unproven (Oct 2024; Cells; https://doi.org/10.3390/cells13191650) (fiorucci2024bileacidsbasedtherapies pages 9-10).

Expert opinions and analysis (authoritative sources) - “The mechanistic involvement of the gut in PSC remains ambiguous,” yet gut microbial metabolites and BA signaling via FXR/GPBAR1 are central candidates; “lower C4 levels… are associated with worse clinical outcomes,” advising caution with strong FXR–FGF19 suppression in advanced disease (Oct 2024; Cells; https://doi.org/10.3390/cells13191650) (fiorucci2024bileacidsbasedtherapies pages 10-11, fiorucci2024bileacidsbasedtherapies pages 9-10). - Cholangiocytes function as an immunologic hub capable of antigen presentation to unconventional T cells, and ECM stiffness actively drives their profibrotic program; better definition of cholangiocyte senescence and death modalities is a key research priority (Sep 2025; Hepatology; https://doi.org/10.1097/hep.0000000000001093) (jalansakrikar2025centralrolefor pages 17-18).

Relevant statistics and data - Incidence/prevalence: Reviews summarize incidence ~1–1.5 per 100,000 person-years and prevalence ~6–16 per 100,000; male predominance; strong PSC–IBD association (Oct 2024; Cells; https://doi.org/10.3390/cells13191650) (fiorucci2024bileacidsbasedtherapies pages 1-2). - PSC–IBD frequency: 60–80% of PSC patients have IBD (predominantly UC); 5–10% of UC patients have PSC (Dec 2024; Cells; https://doi.org/10.3390/cells13231997) (wang2024molecularmechanismsof pages 6-8). - Progression: About 40% of patients ultimately undergo liver transplantation; typical time to transplant ~12–20 years (Oct 2024; Cells; https://doi.org/10.3390/cells13191650) (fiorucci2024bileacidsbasedtherapies pages 1-2, fiorucci2024bileacidsbasedtherapies pages 2-4). - Bile-acid synthesis marker C4: Lower C4 associates with higher risk of transplant or death; UDCA did not change C4 (Oct 2024; Cells; https://doi.org/10.3390/cells13191650) (fiorucci2024bileacidsbasedtherapies pages 9-10).

Gene/protein annotations with ontology terms (examples) - IL2RA (HGNC:6008): T cell activation, immune tolerance (GO:0042110; GO:0006955); genetic association in PSC (Oct 2024; Cells) (fiorucci2024bileacidsbasedtherapies pages 2-4). - MST1 (HGNC:7390): Immune cell trafficking/adhesion; PSC association (Oct 2024; Cells) (fiorucci2024bileacidsbasedtherapies pages 2-4). - SH2B3 (HGNC:30473), BACH2 (HGNC:935), DCDC2 (HGNC:22911): Immune regulation and cholangiocyte/microtubule biology implicated via GWAS/association (Oct 2024; Cells) (fiorucci2024bileacidsbasedtherapies pages 2-4). - FXR/NR1H4 (HGNC:7965), GPBAR1/TGR5 (HGNC:18174): Bile acid receptor signaling in hepatobiliary and immune cells (GO:0009755; GO:0007186) (fiorucci2024bileacidsbasedtherapies pages 9-10, fiorucci2024bileacidsbasedtherapies pages 1-2).

Cell type involvement (CL terms) - Cholangiocytes (CL:0002396), portal fibroblasts (CL:0002550), hepatic stellate cells (CL:0000632), Kupffer cells/macrophages (CL:0000235), dendritic cells (CL:0000451), MAIT cells (CL:0001064), iNKT cells (CL:0000814), CD4+ and CD8+ T cells (CL:0000624/CL:0000625), sinusoidal endothelial cells (CL:0002553) (jalansakrikar2025centralrolefor pages 17-18, fiorucci2024bileacidsbasedtherapies pages 4-5, fiorucci2024bileacidsbasedtherapies pages 2-4).

Anatomical locations (UBERON terms) - Bile ducts (UBERON:0002394/0002396), peribiliary glands (UBERON:0012684), portal tract (UBERON:0005912), liver sinusoids (UBERON:0001983), ileum/colon (UBERON:0002116/0001155) (wang2024molecularmechanismsof pages 6-8, fiorucci2024bileacidsbasedtherapies pages 4-5).

Chemical entities (CHEBI terms, examples) - Ursodeoxycholic acid (CHEBI:9907), cholic acid (CHEBI:36262), chenodeoxycholic acid (CHEBI:16755), obeticholic acid (CHEBI:82775), maralixibat (ASBT inhibitor), aldafermin (FGF19 analog), cilofexor/tropifexor (FXR agonists), elafibranor/seladelpar (PPAR agonists) (fiorucci2024bileacidsbasedtherapies pages 1-2, fiorucci2024bileacidsbasedtherapies pages 26-27, fiorucci2024bileacidsbasedtherapies pages 10-11).

Evidence items (with URLs/dates) - Fiorucci et al., Bile Acids-Based Therapies for PSC: Current Landscape and Future Developments. Cells. Published Oct 4, 2024. DOI: 10.3390/cells13191650; URL: https://doi.org/10.3390/cells13191650 (fiorucci2024bileacidsbasedtherapies pages 2-4, fiorucci2024bileacidsbasedtherapies pages 9-10, fiorucci2024bileacidsbasedtherapies pages 1-2, fiorucci2024bileacidsbasedtherapies pages 4-5, fiorucci2024bileacidsbasedtherapies pages 26-27, fiorucci2024bileacidsbasedtherapies pages 10-11). - Wang et al., Molecular Mechanisms of Fibrosis in Cholestatic Liver Diseases and Regenerative Medicine-Based Therapies. Cells. Dec 2024. DOI: 10.3390/cells13231997; URL: https://doi.org/10.3390/cells13231997 (psc–ibd statistics, gut–liver axis) (wang2024molecularmechanismsof pages 6-8). - Jalan-Sakrikar et al., Central role for cholangiocyte pathobiology in cholestatic liver diseases. Hepatology. Sep 2025. DOI: 10.1097/hep.0000000000001093; URL: https://doi.org/10.1097/hep.0000000000001093 (MAIT/CD1d/MR1; epigenetic-senescence; ECM stiffness; DR) (jalansakrikar2025centralrolefor pages 17-18, jalansakrikar2025centralrolefor pages 6-7). - Crothers et al., Past, current, and future trends in the prevalence of PSC and IBD across England (2015–2027). Lancet Regional Health – Europe. Sep 2024. DOI: 10.1016/j.lanepe.2024.101002; URL: https://doi.org/10.1016/j.lanepe.2024.101002 (fiorucci2024bileacidsbasedtherapies pages 10-11).

Candidate therapeutics and outcomes (selected) - UDCA: Widely used, but no evidence of delayed transplant or survival benefit in PSC (Oct 2024; Cells; https://doi.org/10.3390/cells13191650) (fiorucci2024bileacidsbasedtherapies pages 1-2). - FXR agonists: Obeticholic acid, cilofexor, tropifexor under investigation in PSC; caution that FXR–FGF19 axis can suppress BA synthesis, and lower C4 correlates with worse outcomes, especially in advanced disease (Oct 2024; Cells; https://doi.org/10.3390/cells13191650) (fiorucci2024bileacidsbasedtherapies pages 9-10, fiorucci2024bileacidsbasedtherapies pages 10-11). - FGF19 analogs: Aldafermin suppresses hydrophobic BAs in cholestasis and is being explored across cholestatic diseases (e.g., JHEP Rep. 2021, referenced within review) (fiorucci2024bileacidsbasedtherapies pages 26-27). - ASBT/IBAT inhibitors: Maralixibat has been piloted (Hepatology Communications 2023) with biochemical effects; class continues in evaluation for PSC (fiorucci2024bileacidsbasedtherapies pages 26-27, fiorucci2024bileacidsbasedtherapies pages 10-11). - PPAR agonists: Elafibranor and seladelpar are being evaluated in cholestatic disease contexts; mechanistic rationale via anti-inflammatory and metabolic pathways (fiorucci2024bileacidsbasedtherapies pages 1-2, fiorucci2024bileacidsbasedtherapies pages 10-11). - norUDCA: Harnesses cholehepatic shunting; part of the bile-acid–centric therapeutic armamentarium under study in PSC (fiorucci2024bileacidsbasedtherapies pages 10-11).

Direct supporting quotes - “Activation of the liver immune system by intestinal antigens… leading to NF-κB- and NLRP3-dependent generation of cytokines… including IL-6, IL-12, IL-1β, and TNF-α” (Oct 2024; Cells; DOI 10.3390/cells13191650) (fiorucci2024bileacidsbasedtherapies pages 2-4). - “Lower C4 levels, indicating suppressed bile acid synthesis, are associated with worse clinical outcomes… UDCA did not change C4” (Oct 2024; Cells; DOI 10.3390/cells13191650) (fiorucci2024bileacidsbasedtherapies pages 9-10). - “CD1d is downregulated in PSC and PBC… bile from PSC patients contains MAIT antigens… anti-MR1 blocking antibody attenuated activation of MAIT cells” (Sep 2025; Hepatology; DOI 10.1097/hep.0000000000001093) (jalansakrikar2025centralrolefor pages 17-18).

Limitations Where possible, 2023–2024 sources were prioritized; several authoritative mechanistic insights (MAIT/CD1d/MR1 and epigenetic–senescence programs) derive from a 2025 Hepatology review synthesizing recent primary studies, included here due to its comprehensive, expert nature and lack of equally detailed 2023–2024 alternatives in the current evidence set (jalansakrikar2025centralrolefor pages 17-18, jalansakrikar2025centralrolefor pages 6-7).

Summary PSC pathogenesis arises from convergent immune, epithelial, stromal, and bile-acid–microbiome mechanisms. Gut-primed lymphocytes home to the liver; cholangiocytes enact immune and senescence programs reinforced by epigenetic remodeling; ductular reaction and portal mesenchyme crosstalk drive periductal fibrosis; and altered bile-acid receptor signaling intersects with dysbiosis to perpetuate injury. Genetic predisposition in HLA and non-HLA immune loci frames susceptibility. Therapeutics target bile-acid pathways (FXR–FGF19, TGR5, ASBT), metabolic and inflammatory axes (PPAR), and microbiome modulation, with ongoing efforts to align mechanism with disease stage to avoid deleterious over-suppression of BA synthesis in advanced disease (fiorucci2024bileacidsbasedtherapies pages 9-10, fiorucci2024bileacidsbasedtherapies pages 1-2, fiorucci2024bileacidsbasedtherapies pages 2-4, fiorucci2024bileacidsbasedtherapies pages 10-11, jalansakrikar2025centralrolefor pages 17-18).

References

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