Clinical Pearls & Morning Reports
Published February 8, 2023
Primary biliary cholangitis (previously called primary biliary cirrhosis) is an autoimmune disease that is characterized by T-cell–mediated destruction of the small intrahepatic bile ducts. Read the NEJM Case Records of the Massachusetts General Hospital here.
Q: What are the diagnostic criteria for primary biliary cholangitis?
A: Diagnosis is based on the presence of at least two of three criteria: biochemical evidence of cholestasis, with elevation of the alkaline phosphatase level, usually to a level that is more than 1.5 times the upper limit of the normal range; the presence of antimitochondrial antibodies; and histologic evidence of nonsuppurative cholangitis and destruction of the interlobular bile ducts.
Q: Is the presence of antimitochondrial antibodies specific for primary biliary cholangitis?
A: Although a positive test for antimitochondrial antibodies is highly specific for primary biliary cholangitis, this result has also been reported in patients who have sarcoidosis and do not have primary biliary cholangitis.
A: Patients who receive a diagnosis of primary biliary cholangitis are typically women in the fifth or sixth decade of life who present with an elevated alkaline phosphatase level. Men tend to be older and to have a higher bilirubin level at the time of diagnosis than women. In addition, men are less likely than women to have a favorable response to ursodeoxycholic acid, which is the first-line therapy for primary biliary cholangitis. The most common symptoms are fatigue and pruritus, but the disease may be asymptomatic. An increased IgM level and hypercholesterolemia are both associated with primary biliary cholangitis; hypercholesterolemia is present in 50 to 75% of patients with this disease. Primary biliary cholangitis may progress to cirrhosis and its attendant complications, including portal hypertension, particularly in patients who do not have an adequate response to treatment.
A: Treatment with ursodeoxycholic acid results in normalization of the alkaline phosphatase level (defined as a level <1.5 times the upper limit of the normal range), the γ-glutamyltransferase level, and the alanine aminotransferase level in approximately 60% of patients by 2 years, and the treatment has been associated with significant increases in 5-year and 10-year survival.