Progressive familial intrahepatic cholestasis type 3 (PFIC3), a rare chronic liver disease: A case report

Abstract

Progressive familial intrahepatic cholestasis type 3 (PFIC3) is a rare autosomal recessive chronic liver disease characterized by reduced secretion of bile phospholipids resulting from pathogenic variants in the ABCB4 gene. In pediatric cases, it typically presents with jaundice, pruritus, hepatosplenomegaly, and elevated GGT levels and may progress to cirrhosis and liver failure with advancing age. This study presents a pediatric case diagnosed with PFIC3. A 7.5-year-old female patient presented with jaundice, fatigue, and pruritus. Physical examination revealed an icteric appearance, hepatosplenomegaly, and findings consistent with chronic liver disease. Laboratory findings showed cholestasis and elevated liver enzyme levels. Imaging studies also revealed findings consistent with chronic liver disease. Liver biopsy revealed inflammation, fibrosis, and a reduction in the number of bile ducts. Genetic testing identified compound heterozygous variants in the ABCB4 gene, one of which was pathogenic and the other a variant of uncertain significance (VUS). In conclusion, genetic analysis is critically important in the diagnosis of PFIC3, alongside clinical, laboratory, and histopathological findings. Screening other family members is important for early diagnosis, disease management, and prognosis.