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Start free with EleplanPrimary sclerosing cholangitis
ORPHA:171Disease
Also called PSC
What it is
Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure.
Key facts
- Prevalence
- 1-9 / 100 000
- Age of onset
- Adolescent, Adult, Childhood, Elderly
- Inheritance
- Multigenic/multifactorial
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
3- Abnormal biliary tract morphologyDiagnostic criterion
- Autoimmunity
- CholestasisDiagnostic criterion
Common30–79%
16- Abnormal large intestine physiology
- Ascites
- Cirrhosis
- Dilated superficial abdominal veins
- Elevated alkaline phosphatase of hepatic origin
- Elevated circulating hepatic transaminase concentration
- Fever
- Hepatic fibrosis
- Hepatomegaly
- Hepatosplenomegaly
- Palmar telangiectasia
- Portal hypertension
- Spider hemangioma
- Splenomegaly
- Ulcerative colitis
- Weight loss
Sometimes5–29%
28- Abdominal pain
- Adenocarcinoma of the large intestine
- Celiac disease
- Cholangiocarcinoma
- Cholelithiasis
- Chronic hepatic failure
- Congestive heart failure
- Depression
and 20 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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