Primary biliary cholangitis (PBC) is rare, with a reported prevalence of 19 to 402 cases per million persons. The vast majority of patients (90 to 95 percent) are female, and most patients are diagnosed between the ages of 30 and 65 years (often in their 40s or 50s), though the disease has been reported in females as young as 15 years and as old as 93 years.
Clinical manifestations
Patients with PBC may be asymptomatic, or they may present with symptoms such as fatigue and pruritus. Other clinical manifestations include jaundice, cholestatic liver enzymes, antimitochondrial antibodies (AMA), and signs and symptoms of cirrhosis.
•Approximately 50 to 60 percent of patients with PBC are asymptomatic at diagnosis and are detected because of abnormalities in liver biochemical tests obtained for other reasons. Among patients with symptoms, fatigue and pruritus are most commonly seen.
•The findings on physical examination in patients with PBC vary widely and depend on the stage of the disease at time of presentation. The physical examination is often normal in patients who are asymptomatic. Skin findings are common, such as hyperpigmentation, excoriations, xanthelasmas, and jaundice. Patients may also have hepatosplenomegaly or examination findings suggestive of cirrhosis.
•Common laboratory test abnormalities in patients with PBC included an elevated alkaline phosphatase, AMA, antinuclear antibodies (ANA), and hyperlipidemia. Other findings may include mild elevations in the aminotransferases and an elevated bilirubin level.
•Patients with PBC are often diagnosed with other autoimmune disorders, including Sjögren syndrome and autoimmune thyroid disease. Musculoskeletal complaints, frequently due to an inflammatory arthropathy, occur in approximately 40 percent of patients with PBC.
