Abstract
Low phospholipid-associated cholelithiasis (LPAC) is a rare genetic syndrome characterized by the development of intrahepatic cholelithiasis in young adults. It is associated with a mutation of adenosine triphosphate-binding cassette subfamily B member 4 that leads to impaired solubilization of biliary cholesterol, which in turn precipitates as cholesterol crystals in the intrahepatic bile ducts. We present a young woman who underwent cholecystectomy in her 20s followed by recurrent episodes of right upper quadrant pain and liver enzyme abnormalities. She later developed intrahepatic cholestasis of pregnancy and was started on ursodeoxycholic acid, with improvement of her liver biochemistries. Subsequently, genetic testing confirmed adenosine triphosphate-binding cassette subfamily B member 4 mutation. The case highlights the importance of recognition of adult-onset genetic cholestatic syndromes.
