Clinical features

Up to 60% of patients are entirely asymptomatic at the time of diagnosis.  In these patients, the disease may be detected following an incidental finding of abnormal liver biochemistry (LFT).  Symptoms of PBC that may occur at any stage of the liver disease include fatigue, pruritus, pain in the right upper quadrant, indigestion and bone pain.  Sicca symptoms and Raynaud’s phenomenon are common and may reflect an additional autoimmune disorder.  Xanthelasma are frequently observed.

Patients with advanced disease may suffer the usual manifestations of portal hypertension or hepatocellular failure, such as variceal haemorrhage, ascites, jaundice or hepatic encephalopathy.  PBC-related cirrhosis may be complicated by hepatocellular carcinoma.  In patients with marked ductopenia, severe cholestasis may lead to malabsorption; deficiencies of fat-soluble vitamins; steatorrhoea, and weight loss.

Patients with PBC may also have features of associated conditions.  Conditions associated with PBC include osteoporosis and other autoimmune disorders.  Up to 50% of PBC patients have at least one additional autoimmune condition, most commonly Sjögren’s syndrome (~25%), Raynaud’s phenomenon (~25%), autoimmune thyroid disease (~25%), rheumatoid arthritis (~20%) or systemic sclerosis (~10%).