22nd July 2023

Primary biliary cholangitis (PBC)

Background

Previously known as primary biliary cirrhosis, PBC is an autoimmune condition which affects the bile ducts. The exact aetiology is not fully understood.

The disease is characterised by destruction of the epithelial cells in the smaller intrahepatic bile ducts, alongside portal tract inflammation. PBC is a progressive disease which generally leads to chronic – and then end-stage – liver disease. However, there is a subgroup of PBC patients with a lower risk of disease progression.

The condition is considerably more common in women with a female to male ratio of 10:1. Typically, people present in middle age; 55-65 years is the peak age range for diagnosis.

PBC is associated with other autoimmune conditions such as Hashimoto’s thyroiditis, Sjogren’s disease and coeliac disease. There may also be a positive family history for PBC.

Assessment and diagnosis

The most common presenting features are fatigue and pruritus. However, people can be asymptomatic and, therefore, may present as incidental abnormal liver function tests. In advanced disease, there may be symptoms and signs in keeping with chronic liver disease and cirrhosis.

The diagnosis of PBC is made on the presence of the following findings:

• Cholestatic LFTs: elevated ALP and/or GGT
• Serum autoantibodies: antimitochondrial antibodies (AMA) or PBC-specific antinuclear antibodies (ANA)
• Liver histology: demonstrating bile duct lesions with portal tract inflammation and granulomas

Liver biopsy is now used less often to diagnose PBC, due to the accuracy of serological markers, and the risks of biopsy. Ultrasound scans do not demonstrate PBC but are indicated as part of the assessment in order to exclude other causes of cholestasis, such as gallstones.

Management

The goals of management are symptom control and prevention of disease progression. The first line treatment targeting disease progression is ursodeoxycholic acid. For the proportion of patients who do not respond, obeticholic acid is the second line. Cholestyramine is used for symptomatic relief of pruritus. Rifampicin or naltrexone can be used as second line agents.