History and exam

Key diagnostic factors

common

male sex

Male-to-female ratio of 2:1, although the ratio is much lower when inflammatory bowel disease is excluded.[3][4][6]

history of inflammatory bowel disease

Associated inflammatory bowel disease (typically ulcerative colitis but also Crohn's disease) is present in an estimated 50% to over 80% of cases - it is estimated that 0.6% to 8.0% of patients with inflammatory bowel disease have primary sclerosing cholangitis.[2][3][9][12][13]​

Other diagnostic factors

common

age 25-45 years

Primary sclerosing cholangitis can occur at any age (including childhood), but typically presents between 25 and 45 years, with a median age of 36-39 years at the time of diagnosis.[3]

abdominal pain

Non-specific right upper quadrant or epigastric pain is present in 20% to 30% of cases.[5][8][10]

pruritus

Usually generalised and intermittent, although it can be severe and is often worse at night and exacerbated by heat; present in 30% to 60% of cases.[3]

fatigue

Very non-specific; present in 6% to 17% of cases.[5][10]

weight loss

May be related to fat malabsorption, active inflammatory bowel disease, and/or advanced liver disease.

fever

May represent episodic bacterial cholangitis; present in 4% to 11% of cases.[5][10]

jaundice

Present in 6% to 27% of cases.[5][10]

uncommon

steatorrhoea

Caused by decreased bile acid concentrations in the small bowel leading to fat malabsorption.

splenomegaly

Feature of advanced liver disease and suggestive of portal hypertension; present in 29% of cases.[8]

ascites

Feature of advanced liver disease and suggestive of portal hypertension; present in 2% to 4% of cases.[5][8][10]

encephalopathy

Feature of advanced liver disease.

Risk factors

strong

male sex

Male-to-female predominance is 2:1, although the ratio is much lower when inflammatory bowel disease is excluded.[3][4][6][8][10]

inflammatory bowel disease (IBD)

Associated IBD (typically ulcerative colitis but also Crohn's disease) is present in an estimated 50% to over 80% of cases - it is estimated that 0.6% to 8.0% of patients with IBD have primary sclerosing cholangitis (PSC).[2][3][9][12][13]​​ Frequently characterised by pancolitis with rectal sparing and backwash ileitis.[23] Bowel disease may be silent and only diagnosed if colonoscopy with biopsy is performed.

IBD diagnosis often precedes that of PSC, with a mean elapsed time from the onset of IBD to PSC diagnosis of 9 years (range 1.3 to 23.0 years).[6]

genetic predisposition

First-degree relatives are at increased risk of primary sclerosing cholangitis.[18]

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