Benign recurrent intrahepatic cholestasis

Abstract

Benign recurrent intrahepatic cholestasis is a rare autosomal recessive disorder characterized by repeated episodes of intense pruritus, profound elevations in serum alkaline phosphatase and bilirubin, with normal or nearly normal values for serum gamma-glutamyl transferase. Attack lasts from several weeks to months and resolve spontaneously. Between attacks patients remain asymptomatic for months to years. The disorder does not lead to progressive liver injury and is not fatal. Genetic studies have demonstrated that the disorder is the result of a mutation in ATP8BI, a gene that codes for the FIC1 (familial intrahepatic cholestasis) protein, which is also affected in other forms of familial intrahepatic cholestasis. It is believed this protein plays a role in bile acid secretion, in aminophospholid transport, and in maintaining fluidity of the cell membrane. Therapy is supportive and aimed at relieving pruritus and other complications of severe cholestasis until the episode resolves spontaneously.