A Comprehensive Review of Progressive Familial Intrahepatic Cholestasis (PFIC): Genetic Disorders of Hepatocanalicular Transporters

Gastroenterology Res. 2014 Apr;7(2):39-43. doi: 10.14740/gr609e.

Syed Amer ¹, Amtul Hajira ²

Affiliations

1 Department of Internal Medicine, Mayo Clinic, Phoenix, AZ 85054, USA.
2 Department of Family Medicine, Carle Foundation Hospital, Urbana, IL 61801, USA.

PMID: 27785268 DOI: 10.14740/gr609e

Abstract

Progressive familial intrahepatic cholestasis or PFIC is a general term used to describe a group of genetic disorders involving the hepatocanalicular transporters. These diseases are characterized by persistent cholestasis, pruritus and jaundice. Type I PFIC is characterized by defect in the gene that codes for aminophospholipid translocase protein and maintains canalicular membrane stability. Types 2 and 3 are caused by defect in genes that code for bile acid transporter and a phospholipid translocase, respectively. This review summarizes the genetics, clinical features, diagnosis and treatment of the three types of PFIC.

Keywords

Cholestasis; Hepatocanalicular transporters; Progressive familial intrahepatic Cholestasis.

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