Soumaya Zaouga*, Wided Bouhlel, Ramzi Tababi, Mejda Zakhama, Nabil Ben Chaabane and Leila Safer

Gastroenterology, Fattouma Bourguiba Hospital, Monastir

*Corresponding Author: Soumaya Zaouga, Gastroenterology, Fattouma Bourguiba Hospital, Monastir.

Received: October 06, 2023; Published: November 27, 2023

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 LPAC syndrome was retained and the patient was put under medical treatment with ursodeoxycholic acid (UDCA).

Keywords: LPAC Syndrome; Gastrointestinal Bleeding; Secondary Sclerosing Cholangitis; UDCA

References

1. Goubault P., et al. “Low-Phospholipid Associated Cholelithiasis (LPAC) syndrome: A synthetic review”. Journal of Visceral Surgery 156.4 (2019): 319‑3
2. Rosmorduc O and Poupon R. “Low phospholipid associated cholelithiasis: association with mutation in the MDR3/ABCB4 gene”. Orphanet Journal of Rare Diseases 2.1 (2009): 29.
3. Ruemmele P., et al. “Secondary sclerosing cholangitis”. Nature Reviews Gastroenterology and Hepatology 6.5 (2009): 287‑2
4. Miossi LS., et al. “Low-Phospholipid-Associated Cholelithiasis Syndrome (LPAC): quando suspeitar? Relato de caso/Low-Phospholipid-Associated Cholelithiasis Syndrome (LPAC): when to suspect? Case report”. Arquivos Médicos dos Hospitais e da Faculdade de Ciências Médicas da Santa Casa de São Paul (2021).
5. Khoshpouri P., et al. “Imaging Features of Primary Sclerosing Cholangitis: From Diagnosis to Liver Transplant Follow-up”. RadioGraphics 39.7 (2019): 1938‑19
6. Cabrera D., et al. “UDCA, NorUDCA, and TUDCA in Liver Diseases: A Review of Their Mechanisms of Action and Clinical Applications. In: Fiorucci S, Distrutti E, éditeurs. Bile Acids and Their Receptors. Cham: Springer International Publishing. (Handbook of Experimental Pharmacology 256 (2019) 237‑2
7. Dong C., et al. “Low-phospholipid-associated cholelithiasis syndrome: Prevalence, clinical features, and comorbidities”. JHEP Reports 3.2 (2022): 100201.

Citation

Citation: Soumaya Zaouga.,et al. “Diagnosis of Secondary Sclerosing Cholangitis in a Young Patient with LPAC Syndrome Revealed by Gastrointestinal Bleeding".Acta Scientific Gastrointestinal Disorders 6.12 (2023): 59-61.

Copyright

Copyright: © 2023 Soumaya Zaouga.,et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.