A case of primary biliary cholangitis – diagnostic and treatment approaches

Abstract

Primary biliary cholangitis (PBC) is a chronic, autoimmune, slowly progressive liver disease, characterized by the presence of antimitochondrial antibodies (AMA), cholestatic syndrome, and histological lesions of the interlobular bile ducts, with the potential progression to liver fibrosis and cirrhosis. AMA or AMA-M2 are specific markers for diagnosis of PBC, detected in about 90 % of patients. Antinuclear antibodies (ANA) specific for primary biliary cholangitis, anti-sp100 or anti-gp210 subtypes, can be used as markers of PBC diagnosis in case of patients with negative AMA. In addition to being specific for diagnosis of PBC, the presence of anti-gp210 was associated with more severe forms, rapid progression and poor prognosis of the disease. The first therapeutic option for PBC is considered ursodeoxycholic acid (UDCA), and for patients with a suboptimal response, it is recommended second-line treatment with obeticholic acid. 8-10 % of patients with PBC may have overlap syndrome with autoimmune hepatitis (AIH), which occurs with biochemical, serological and/or histological features of AIH in patients with cholestatic manifestations of PBC. „Paris Criteria” help to identify patients with PBC/AIH overlap syndrome. The article also examines a clinical case of PBC, AMA negative, which required additional investigations for evaluation, diagnostic discussion and current management of overlap syndrome associating PBC and autoimmune hepatitis.