Novel ABCB4 mutation in a female patient with progressive familial intrahepatic cholestasis type 3: a case report and literature review

Introduction and importance:Progressive familial intrahepatic cholestasis (PFIC) is an uncommon disorder inherited in an autosomal recessive manner. PFIC type 3 (PFIC-3) results from mutations in the ABCB4 gene. This type typically advances from chronic cholestasis, which may occur with or without jaundice.Case presentation:A 16-year-old female presented with abdominal pain, later developing liver complications. Genetic testing revealed a novel ABCB4 gene mutation linked to cholestasis. Diagnosed with PFIC-3, she was treated with ursodeoxycholic acid (UDCA) and vitamins, leading to improved liver function. Despite uncertain clinical significance of the mutation, predictions suggested it was damaging. Her liver function fully recovered, and she remained in remission during follow-up visits.Clinical discussion:PFIC3 is a rare, autosomal recessive disorder causing cholestasis and liver damage. Our study reported a young female with a novel ABCB4 mutation who responded well to UDCA. Diagnosis relies on comprehensive evaluation, and treatment options include UDCA, surgery, and liver transplantation.Conclusion:PFIC-3 gene must be considered while evaluating a young female with symptoms of cholestasis.