Maggs JR., Chapman RW.
PURPOSE OF REVIEW: Primary sclerosing cholangitis is a chronic cholestatic liver disease characterized by strictures of the biliary tree complicated by cirrhosis and cholangiocarcinoma. It is immune mediated, although the precise aetiology remains unknown. RECENT FINDINGS: Research into etiopathogenesis and epidemiology, diagnosis of cholangiocarcinoma, associations with inflammatory bowel disease and autoimmune pancreatitis, and medical therapy are discussed. SUMMARY: Multiple gene polymorphisms associated with primary sclerosing cholangitis have been investigated. Common inflammatory bowel disease-associated polymorphisms do not confer any susceptibility to primary sclerosing cholangitis; the role of intercellular adhesion molecule-1 gene polymorphisms and CCR5 mutations remain unclear. Elevated IgG4 has been demonstrated in a subgroup of primary sclerosing cholangitis patients, which may indicate an overlap with autoimmune pancreatitis and possible responsiveness to steroids. Biliary brush cytology may assist in diagnosis of cholangiocarcinoma, although further clinical indicators are required. Animal studies suggest the superiority of 24-norursodeoxycholic acid over ursodeoxycholic acid in reducing histological disease progress; translational studies in humans are now required.