A Case of Progressive Familial Intrahepatic Cholestasis Type-3

Progressive familial intrahepatic cholestasis (PFIC) is a rare autosomal recessive disorder marked by severe, early-onset cholestasis due to genetic mutations in hepatobiliary transporters, leading to toxic bile acid accumulation and liver damage. PFIC is categorized into three types based on mutations in ATP8B1, ABCB11, and ABCB4 genes. This case involves a five-year-old female with symptoms such as easy fatigability, coarse facial features, respiratory distress, pruritus, abdominal distension, dark-colored urine, pale stool, and generalized edema. The patient, born to consanguineous parents with a family history of similar symptoms, showed severe pallor, icterus, clubbing, generalized edema, hepatomegaly, splenomegaly, and ascites on examination. Laboratory findings indicated severe anemia, thrombocytopenia, conjugated hyperbilirubinemia, low protein and albumin levels, and elevated liver enzymes. Imaging confirmed liver and spleen enlargement, ascites, and cardiomegaly. Genetic testing revealed a homozygous deletion in the ABCB4 gene, diagnosing PFIC type 3. Treatment included ursodeoxycholic acid, fat-soluble vitamins, propranolol, intravenous albumin, fresh frozen plasma, and red cell transfusions. The patient was referred for further gastroenterological management and potential liver transplantation, and the family received genetic counseling. This case highlights the critical role of genetic testing in diagnosing and managing PFIC and the necessity of early identification and multidisciplinary care for such complex genetic disorders.