Early Medical Therapy May Obviate the Need the for Liver Transplant in Progressive Familial Intrahepatic Cholestasis

We describe a case of two-year-old boy presenting with debilitating pruritus, patchy alopecia and jaundice since the age of 6 months. On evaluation he had intrahepatic cholestasis with persistently raised serum alkaline phosphatase, normal Gamma glutamyl transferase and raised serum bile acid levels. His liver biopsy showed bland cholestasis and electron microscopy showed granular bile suggestive of Progressive familial intrahepatic cholestasis (PFIC) type I. Medical therapy with ursodeoxycholic acid, cholestyramine, and rifampicin with nutritional modification was successful in alleviating the symptoms and correcting the nutritional status. At present his liver function had stabilized at 1 year follow up and there is no need for liver transplant in him. To our knowledge this is only the twelfth case of Progressive familial intrahepatic cholestasis type reported from India. Successful medical therapy of PFIC has been rarely described in tropical countries including India. Most of the data in the literature describe poor response to medical treatment alone and need for surgical biliary diversion and liver transplant in these patients. Liver transplant has guarded prognosis in patients with PFIC I if extrahepatic manifestations are present at the onset. Recurrence of PFIC after a successful Liver transplant is a possibility due to all immunization of recipient against the effected protein. Our experience suggests that if instituted early medical therapy alone may obviate the need for liver transplant in a subset of patients with PFIC. Further molecular testing is required to identify this sub-group of patients with favorable prognosis.