Recurrent Intrahepatic Hepatolithiasis Associated With Low-Phospholipid–Associated Cholelithiasis Syndrome: An Underdiagnosed Pathology

Low-phospholipid–associated cholelithiasis (LPAC) syndrome is a rare ABCB4 -related cholestatic disorder characterized by recurrent biliary symptoms and intrahepatic lithiasis. A 55-year-old woman with recurrent intrahepatic hepatolithiasis underwent multiple endoscopic retrograde cholangiopancreatographies with lithotripsy and stenting without durable stone clearance, ultimately requiring right hepatic lobectomy. Postoperative genetic testing identified a heterozygous ABCB4 variant, confirming LPAC syndrome, and ursodeoxycholic acid therapy was initiated with subsequent clinical stability. This case highlights an atypical late-onset LPAC presentation and diagnostic challenges when imaging findings are subtle. LPAC should be considered in recurrent intrahepatic stones regardless of age.