Low phospholipid associated cholelithiasis: association with mutation in the MDR3-ABCB4 geneReport as inadecuate

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Orphanet Journal of Rare Diseases

, 2:29

First Online: 11 June 2007Received: 27 March 2007Accepted: 11 June 2007DOI: 10.1186-1750-1172-2-29

Cite this article as: Rosmorduc, O. & Poupon, R. Orphanet J Rare Dis 2007 2: 29. doi:10.1186-1750-1172-2-29


Low phospholipid-associated cholelithiasis LPAC is characterized by the association of ABCB4 mutations and low biliary phospholipid concentration with symptomatic and recurring cholelithiasis. This syndrome is infrequent and corresponds to a peculiar small subgroup of patients with symptomatic gallstone disease. 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. Defect in ABCB4 function causes the production of bile with low phospholipid content, increased lithogenicity and high detergent properties leading to bile duct luminal membrane injuries and resulting in cholestasis with increased serum gamma-glutamyltransferase GGT activity. Intrahepatic gallstones may be evidenced by ultrasonography US, computing tomography CT abdominal scan or magnetic resonance cholangiopancreatography, intrahepatic hyperechogenic foci along the biliary tree may be evidenced by US, and hepatic bile composition phospholipids may be determined by duodenoscopy. In all cases where the ABCB4 genotyping confirms the diagnosis of LPAC syndrome in young adults, long-term curative or prophylactic therapy with ursodeoxycholic acid UDCA should be initiated early to prevent the occurrence or recurrence of the syndrome and its complications. Cholecystectomy is indicated in the case of symptomatic gallstones. Biliary drainage or partial hepatectomy may be indicated in the case of symptomatic intrahepatic bile duct dilatations filled with gallstones. Patients with end-stage liver disease may be candidates for liver transplantation.

Electronic supplementary materialThe online version of this article doi:10.1186-1750-1172-2-29 contains supplementary material, which is available to authorized users.

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Author: Olivier Rosmorduc - Raoul Poupon

Source: https://link.springer.com/

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