Extrahepatic manifestations of progressive familial intrahepatic cholestasis syndromes: Presentation of a case series and literature review.
Eva-Doreen PfisterCarola DrögeRoman LiebeAmelie StalkeNicole BuhlAntje BallauffTobias CantzEva BueltmannJan StindtTom LueddeUlrich BaumannVerena KeitelPublished in: Liver international : official journal of the International Association for the Study of the Liver (2022)
The spectrum of extrahepatic manifestations in PFIC highlights essential, non-redundant roles of the affected genes in other organs. Extrahepatic features contribute towards low health-related quality of life (HRQOL) and morbidity in PFIC. While OLT is often the only remaining, curative treatment, potential extrahepatic manifestations need to be carefully monitored and addressed.