Liver transplantation and the management of progressive familial intrahepatic cholestasis in children

Abstract

Progressive familial intrahepatic cholestasis (PFIC) is a constellation of inherited disorders that result in the impairment of bile flow through the liver that predominantly affects children. The accumulation of bile results in progressive liver damage, and if left untreated leads to end stage liver disease and death. Patients often present with worsening jaundice and pruritis within the first few years of life. Many of these patients will progress to end stage liver disease and require liver transplantation. The role and timing of liver transplantation still remains debated especially in the management of PFIC1. In those patients who are appropriately selected, liver transplantation offers an excellent survival benefit. Appropriate timing and selection of patients for liver transplantation will be discussed, and the short and long term management of patients post liver transplantation will also be described.

Keywords: Pediatric liver transplant; Progressive familial intrahepatic cholestasis; Familial intrahepatic cholestasis protein 1; Cholestasis; Multidrug resistance protein 3; Pediatric jaundice; Bile salt excretion protein

Core tip: Progressive familial intrahepatic cholestasis is a rare disorder that predominantly affects young children. If left untreated, children develop debilitating cholestasis and eventually progress to liver failure. Liver transplantation is curative of symptoms related to liver disease but in some cases worsens the extrahepatic symptoms. A multidisciplinary approach is critical to obtaining good long-term outcomes.