S3221 Adult Onset Progressive Familial Intrahepatic Cholestasis: A Rare Presentation

Abstract

Introduction: Progressive familial intrahepatic cholestasis (PFIC) is a heterogeneous group of autosomal recessive childhood genetic disorders that disrupt intrahepatic biliary secretion. PFIC accounts for 10 to 15% of children's cholestatic diseases and liver transplantation. Although all patients will require liver transplantation at a certain point, early diagnosis and intervention can delay complications and transplantation. Case Description/Methods: A 41-year-old male presented with cryptogenic cirrhosis and a MELD score of 35 for transplantation evaluation. He had a childhood history of abnormal liver enzymes with a mixed pattern and cholecystectomy due to recurrent gallstones. Prior liver biopsy showed autoimmune features; however, there was no significant response to the conventional therapy with prednisone and azathioprine. However, a re-evaluation of his liver biopsy favored biliary disease: subsequent MRCP with normal bile ducts. Given the insidious onset of his cirrhosis without an identifiable etiology and the suggestion of biliary cause, PFIC was considered during pre-transplantation workup. Genetic testing for ABCB4 confirmed PFIC type 3; subsequently, he underwent liver transplantation with an unremarkable post-operative course. Discussion: This case highlights the impact of exploring a diagnosis of PFIC in adults referred for liver transplantation with long-standing cholestatic liver disease and negative initial workup. While currently, liver transplantation is the primary treatment option for end-stage liver disease from PFIC, advances in gene therapy have led to potentially curative treatments. As such, improved provider awareness and having a lower threshold for diagnostic testing may lead to an earlier diagnosis which is critical for optimal management, delaying the onset of end-stage liver disease, and offering to screen for family members.