Progressive Familial Intrahepatic Cholestasis (PFIC) in Indian Children: Clinical Spectrum and Outcome

ObjectiveTo study the clinical and laboratory profile of children with progressive familial intrahepatic cholestasis (PFIC) and evaluate their outcome.MethodsThe study is a retrospective review of all cases diagnosed with PFIC between January 2011 and July 2015. All children underwent histopathological examination and immunostaining. Management was done as per institute's protocol.ResultsThere were a total of 24 PFIC cases (PFIC 1-2, PFIC 2-19, PFIC 3-3). Eleven presented as neonatal cholestasis, whereas 13 others presented after 6 months of life. Median age of presentation in PFIC 2 was 5.5 months with a time lag of 13 months in diagnosis. PFIC 1 and 2 presented in infancy, whereas PFIC 3 presented late. Familial clustering was seen in 12 of 24 cases. Pruritus resolved with medical management in two-thirds of cases, 3 cases required biliary diversion (BD) with dramatic improvement. One child improved after liver transplantation.ConclusionsPFIC accounts for 8% of neonatal cholestasis and 34% of cholestasis in older children with PFIC 2 being the commonest subtype. Medical therapy is successful in majority. Partial internal BD should be offered to non-cirrhotic low gamma glutamyl transferase PFIC with intractable pruritus. Progression to cirrhosis may be prevented or delayed by early diagnosis and timely intervention.