Progressive Familial Intrahepatic Cholestasis - A Case Report

Introduction Progressive familial intrahepatic cholestasis (PFIC) represents a group of disorders which usually begin in the first months of life and progress to cirrhosis before the end of second decade. The disease occurs due to a defect in bile acid transport leading to cholestasis and resultant hepatocelluler injury1-3. Recent molecular and genetic studies have identified genes responsible for three types of PFIC4. Significant pruritus, hepatomegaly and growth failure are the typical features of PFIC5. Initially described in Amish descendants of Jacob Byler, the condition was originally named Byler disease. Subsequently, numerous phenotypically similar non-Amish patients were reported, and the term Byler syndrome was used to describe these patients’ condition. These terms now have been superseded by the term PFIC6,7. The pattern of appearance of the affected children within families is consistent with autosomal recessive inheritance5. Males and females are affected equally8. Exact frequency is unknown. Fewer than 200 patients have been reported in the medical literature9. Though cholestatic jaundice in infancy is not an uncommon diagnosis in Bangladesh, still we are not very much familial and acquainted to PFIC. Detailing the clinical characterstics will give better information to this syndrome and allow it to be diagnosed with greater frequency and accuracy as well as permitting a more focused investigation of its etiology and pathogenesis. Since no case of PFIC has been reported from Bangladesh, we report the case of progressive familial intrahepatic cholestasis (PFIC) who was admitted in Paediatric Gastroenterology and Nutrition department of Bangabandhu Sheikh Mujib Medical University (BSMMU).