Diagnosis of Secondary Sclerosing Cholangitis in a Young Patient with LPAC Syndrome Revealed by Gastrointestinal Bleeding

Zaouga S, Bouhlel W, Tababi R, Zakhama M, Ben Chaabane N and Safer L

Published on: 2023-10-20

Abstract

Low phospholipid-associated cholelithiasis (LPAC) is a rare genetic disorder characterized by the association of an ABCB4 mutation and low biliary phospholipid concentration with recurrent cholelithiasis, responsible for the development of intrahepatic lithiasis in adults.

The patients with the LPAC syndrome present typically with the following main features: age less than 40 years at onset of symptoms, recurrence of biliary symptoms after cholecystectomy, intrahepatic hyperechoic foci or sludge or microlithiasis along the biliary tree.

While the majority of clinical forms are simple, there also exist complicated forms, involving extended intrahepatic lithiasis and its consequences: lithiasis migration, acute cholangitis, intrahepatic abscess.

Chronic evolution can lead to secondary sclerosing cholangitis or secondary biliary cirrhosis.

We report a case of a 32-year-old woman, cholecystectomized 10 years ago, who presented with hematemesis, upper gastrointestinal endoscopy revealed: Esophageal varices. Ultrasound and MRI showed the presence of intrahepatic calculi disseminated along the bile duct pathway, dysmorphic liver, and signs of secondary sclerosing cholangitis. Viral serologies and immunology tests were negative and the diagnosis of secondary sclerosing cholangitis complicating an LPAC syndrome was retained and the patient was put under medical treatment with ursodeoxycholic acid (UDCA).