Published online Feb 7, 2017. doi: 10.3748/wjg.v23.i5.763
Peer-review started: July 9, 2016
First decision: September 12, 2016
Revised: November 16, 2016
Accepted: January 11, 2017
Article in press: January 11, 2017
Published online: February 7, 2017
Processing time: 199 Days and 16.2 Hours
Familial intrahepatic cholestasis (FIC) comprises a group of rare cholestatic liver diseases associated with canalicular transport defects resulting predominantly from mutations in ATP8B1, ABCB11 and ABCB4. Phenotypes range from benign recurrent intrahepatic cholestasis (BRIC), associated with recurrent cholestatic attacks, to progressive FIC (PFIC). Patients often suffer from severe pruritus and eventually progressive cholestasis results in liver failure. Currently, first-line treatment includes ursodeoxycholic acid in patients with ABCB4 deficiency (PFIC3) and partial biliary diversion in patients with ATP8B1 or ABCB11 deficiency (PFIC1 and PFIC2). When treatment fails, liver transplantation is needed which is associated with complications like rejection, post-transplant hepatic steatosis and recurrence of disease. Therefore, the need for more and better therapies for this group of chronic diseases remains. Here, we discuss new symptomatic treatment options like total biliary diversion, pharmacological diversion of bile acids and hepatocyte transplantation. Furthermore, we focus on emerging mutation-targeted therapeutic strategies, providing an outlook for future personalized treatment for inherited cholestatic liver diseases.
Core tip: Familial intrahepatic cholestasis (FIC) is a group of autosomal recessive liver diseases characterized by intrahepatic cholestasis. Phenotypes vary from only episodic disease to progressive FIC. Current therapeutic options are often insufficient to prevent progression of the disease. This review will discuss the current therapeutic regimen as well as the development of novel therapeutic strategies, focusing on surgical and pharmacological biliary diversion, hepatocyte transplantation and mutation-specific therapy.