Objectives: Progressive familial intrahepatic cholestasis (PFIC) is a constellation of heterogenous inherited disorders thar are characterized by impaired bile flow.Intractable pruritus, failure to thrive,impaired quality of life,decompensated chronic liver failure, and hepatocellular carcinoma are the main indications for liver transplantation (LT) in PFIC patients..While there is an ample literature about LT in PFIC1, 2, and 3 patients, there is a relative paucity of data regarding LT outcomes in newly emerging PFIC variants.
Materials and Methods: A total number of 321 pediatric patients underwent LTbetween January 2001 to September 2023 at Başkent University Ankara Hospital.Thirty (10.7%) children with genetically confirmed PFIC who underwent LT were included in the study. Patients data  was retrospectively collected from patients records and hospital registry system.
Results: A total of 30 PFIC patients [PFIC1 (n=5),PFIC2 (n=12),PFIC3 (n=12),and PFIC4 (n=1)] were included. PFIC patients presented 10.7% of the LT cases in our center.Consanguinity rate was 76.7% and positive family history of PFIC was 40%.Patients in our study typically presented with jaundice,pruritus,failure to thrive and hepatosplenomegaly. Three (60%) of PFIC1 patients had pretransplant chronic diarrhea that persisted after liver transplantation.Liver transplantation indications were intractable pruritus, impaired quality of life,failure to thrive,decompensated chronic liver failure, and hepatocellular carcinoma (HCC).HCC was reported in five (16.6%) patients [PFIC2 (n=2), PFIC3 (n=2), PFIC4 (n=1)].All PFIC1 patients developed posttransplant graft steatosis during their follow up.PFIC2 recurrence was reported in one patient. Mortality rate was 10% [ PFIC1 (n=1),PFIC2 (n=1),and PFIC3(n=1)] . Failure to thrive and short stature were more prominent compared to PFIC2 and PFIC3 patients.There was no improvement in weight and height SD values in PFIC1 patients after LT.
One-year patient survival rate in PFIC1 patients was 100% while 5- and 10-year survival rate was 75%; 5-, and 10-year graft survival rate was 80%.For PFIC2 patients, 1- and 5- and 10-year survival rate was 90%; 1-, 5-, 10-year graft survival rate was 81.5%. 1- and 5-year patient survival rate in PFIC3 patients was 100% while 10-year survival rate was 80%; 1-, 5-, 10-year graft survival rate was 91.7%. The overall 1-, 5-, and 10-year graft survival rate was 85.9%.The overall 1-, 5-, and 10-year patient survival rates in our cohort were 96.3%, 91.2% and 83.6%,respectively. 
Conclusion: Liver transplantation is an effective treatment for PFIC patients with satisfactory long-term survival rates and outcomes.Extrahepatic manifestations are associated with poor transplantation outcomes in PFIC1 patients; thus, patients should be closely followed up for graft steatosis and exacerbation of chronic diarrhea. PFIC2, 3, and 4 patients should be closely monitored for HCC development.