Benign recurrent intrahepatic cholestasis.

[benign recurrent intrahepatic cholestasis]

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 ATP 8 BI , a gene that codes for the FIC 1 (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 .