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

Recurrent cholestasis poses diagnostic challenges and necessitates repeated testing. The <i>ABCB4</i> (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 <i>ABCB4</i> 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.