Primary biliary cholangitis
PBC affects primarily women (approximately 90% of cases) and is diagnosed most commonly in the third to sixth decade of life. Its incidence is highest in the North American and European populations.
Presenting symptoms are subtle, with fatigue and pruritus being the primary complaints. Approximately 50% of patients are asymptomatic at time of diagnosis, with PBC diagnosed on the basis of incidentally detected elevations in liver function tests. As the disease progresses, hepatomegaly, ascites, and jaundice can develop as manifestations of cirrhosis and advanced liver disease.
Common laboratory findings include elevated alkaline phosphatase, hyperbilirubinemia, and positive antimitochondrial antibodies (AMA). In a variant form termed autoimmune cholangitis, patients have identical clinical and pathological features but are antinuclear antibody (ANA)-positive rather than AMA-positive.
The disease is slowly progressive, and some patients may remain asymptomatic for years after diagnosis. Five years from diagnosis, approximately 50% of patients will have disease progression characterized by elevated bilirubin and low albumin. Treatment attempts to slow the progression of the disease. Ursodeoxycholic acid has been the mainstay of treatment, but obeticholic acid was approved in May 2016 by the US Food and Drug Administration (FDA) and demonstrates early promise in slowing the progression of end-stage liver disease in PBC.
For more information, see OMIM.
K74.3 – Primary biliary cirrhosis
31712002 – Primary biliary cirrhosis
- Biliary obstruction or stricture
- Malignancy (particularly gastrointestinal, hepatic, hematopoietic)
- Cholestasis (including chronic total parenteral nutrition dependence)
- Primary sclerosing cholangitis
- Autoimmune hepatitis
- Viral hepatitis (eg, hepatitis A, B, C)
- Alcohol use disorder / alcoholic fatty liver disease
- Nonalcoholic fatty liver disease
- Drug-induced hepatic injury / biliary injury or cholestasis (antibiotics, antifungals, chemotherapies, acetaminophen, statins, isoniazid, phenytoin, estrogens, herbs / supplements)
- Idiopathic ductopenia
- Amyloidosis (AA amyloidosis, AL amyloidosis)
- Liver fluke (clonorchiasis, fascioliasis)
- Wilson disease
- Alpha-1 antitrypsin deficiency