Unveiling the Genetic Culprit: A Diagnostic Dilemma of Recurrent Cholestasis With Intrahepatic Stones.

Abstract

Recurrent cholestasis poses diagnostic challenges and necessitates repeated testing. The ABCB4 (adenosine triphosphate-binding cassette, subfamily B, member 4) gene encodes a protein that removes phospholipids from the hepatic canalicular membrane through bile salts. Mutations lead to a spectrum of clinical syndromes that cause recurrent cholestasis, pruritus, and jaundice. This case follows a young female with recurrent cholestasis postcholecystectomy, intrahepatic stones on endoscopic retrograde cholangiopancreatography, and repeated intrahepatic cholestasis of pregnancy. Phenotypes of ABCB4 mutations should be considered when facing cholestasis of unclear etiology. Early genetic testing and ursodeoxycholic acid treatment may prevent progression toward hepatic fibrosis and end-stage liver disease.