Successful treatment with colestimide for a bout of cholestasis in a Japanese patient with benign recurrent intrahepatic cholestasis caused by ATP8B1 mutation.

[benign recurrent intrahepatic cholestasis]

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 ATP 8 B 1 gene coding FIC 1 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 (FIC 1 ) 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 FIC 1 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 .

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benign recurrent intrahepatic cholestasis

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