Successful Treatment with Colestimide for a Bout of Cholestasis in a Japanese Patient with Benign Recurrent Intrahepatic Cholestasis Caused by ATP8B1 Mutation

Abstract

Benign recurrent intrahepatic cholestasis (BRIC) is an autosomal recessive disorder characterized by bouts of cholestasis that resolve spontaneously without leaving considerable liver damage. Most of BRIC patients have mutations in ATP8B1 gene coding FIC1 protein. It has been suggested that an imbalance between the gut absorption of bile acids and the liver excretion possibly causes the development of cholestasis. We encountered a Japanese woman patient with familial intrahepatic cholestasis type 1 (FIC1) deficiency manifesting BRIC, in whom a rapid and gross elevation of serum total bile acid (TBA) level preceded that of serum total bilirubin level. Interestingly, the early administration of colestimide prevented the development of hyperbilirubinemia along with the additional elevation of serum TBA level. This case suggests that FIC1 deficiency causes an imbalance between the gut absorption of bile acids and the liver excretion leading to cholestasis, and raised the possibility that colestimide may be used as an optional treatment for BRIC.