The prevalence of primary biliary cholangitis (PBC) is up to 35/100,000 in US populations, with a distribution that is heavily skewed towards women (10:1 female-to-male distribution) and those over 45 years of age.
The combination of elevation of serum alkaline phosphatase and a PBC-specific autoantibody (typically anti-mitochondrial antibody) is sufficient for diagnosis in most patients, with no need for biopsy confirmation.
PBC is progressive in most patients; although, in many people, the rate of progression can be so slow that it may not be clinically relevant. Cirrhosis and its typical complications arise in the end stage.
Symptoms (typically pruritus and fatigue) can significantly lower the quality of life, even in patients with a very slowly progressive disease. These symptoms warrant treatment in their own right using specific regimens.
Progression of the disease can be slowed by therapy with ursodeoxycholic acid.
Obeticholic acid is recommended in patients with an inadequate response to ursodeoxycholic acid. The US Food and Drug Administration has restricted the use of obeticholic acid in patients with PBC with advanced cirrhosis because it can cause serious liver injury in this patient population.
Transplantation is an effective treatment for those patients who develop end-stage liver disease with PBC.
Primary biliary cholangitis (PBC) is a chronic disease of the small intrahepatic bile ducts that is characterised by progressive bile duct damage (and eventual loss) occurring in the context of chronic portal tract inflammation. Fibrosis develops as a consequence of the original insult and the secondary effects of toxic bile acids retained in the liver, resulting ultimately in cirrhosis. The almost universal presence of autoantibodies in PBC patients (classically anti-mitochondrial antibodies) has led to the widely held view that the disease has an autoimmune component to its aetiology.
History and exam
Key diagnostic factors
- age 45-60 years
- female sex
Other diagnostic factors
- personal history of autoimmune disease
- family history of autoimmune disease
- history of hypercholesterolaemia
- dry eyes and dry mouth
- sleep disturbance
- postural dizziness/blackouts
- family history of primary biliary cholangitis
- weight loss and other metabolic features of malabsorption
- memory and concentration problems
- skin pigmentation
- female sex
- age between 45-60 years
- family history of PBC/autoimmune disease
- urinary tract infection
1st investigations to order
- alkaline phosphatase
- alanine aminotransferase (ALT)
- serum albumin
- antimitochondrial antibody immunofluorescence
- antinuclear antibody (ANA) immunofluorescence
- antipyruvate dehydrogenase complex-E2 ELISA
- anti-M2 ELISA
- antiglycoprotein-210 ELISA
- anti-Sp100 ELISA
- abdominal ultrasound scan
- magnetic resonance cholangiopancreatography
Investigations to consider
- prothrombin time
- serum immunoglobulin
- liver biopsy
- upper GI endoscopy
- serum alpha-fetoprotein
- transient elastography
developing end-stage liver disease or refractory pruritus
David E. J. Jones, BA, BM, BCh, PhD, FRCP
Professor of Liver Immunology
University of Newcastle
Honorary Consultant Hepatologist
DEJJ has received speaker honoraria from Falk, Intercept, and Abbott, grant funding from Intercept and Pfizer, and has undertaken consultancy work for Falk, GSK, Intercept, and Novartis. DEJJ is an author of a number of articles referenced in this topic.
James Neuberger, BM, BCh
Queen Elizabeth Hospital
JN declares that he has no competing interests.
Ian R. Mackay, AM, MD, FAA, FRACP, FRCPA, FRCP
Department of Biochemistry and Molecular Biology
IRM declares that he has no competing interests.
Ned Snyder, MD, FACP
Professor of Medicine
Chief of Clinical Gastroenterology and Hepatology
University of Texas Medical Branch
NS declares that he has no competing interests.
- Obstructive bile duct lesion
- Small-duct primary sclerosing cholangitis
- Drug-induced cholestasis
- Primary biliary cholangitis
- The diagnosis and management of patients with primary biliary cholangitis
- Log in or subscribe to access all of BMJ Best Practice
Use of this content is subject to our disclaimer