Year 2020 / Volume 112 / Number 7
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A complex case of low-phospholipid-associated cholelithiasis syndrome

573-574

DOI: 10.17235/reed.2020.6625/2019

Luísa Martins Figueiredo, Luis Lourenço, David Horta, Alexandra Martins,

Abstract
The low-phospholipid-associated cholelithiasis (LPAC) syndrome is a form of symptomatic and recurring cholelithiasis occurring in young adults, associated with mutations in the ABCB4 gene. It is a clinical syndrome characterized by at least two of the following criteria: age at onset of biliary symptoms below 40 years, intrahepatic echogenic foci or microlithiasis and recurrence of biliary symptoms after cholecystectomy. In the rare cases progressing to end-stage liver disease, a liver transplant may be indicated. We report a case of a 40-year-old female patient with clinical criteria for LPAC syndrome and with ABCB4 gene mutation. She had a complex history of choledocholithiasis recurrence despite treatment with ursodeoxycholic acid and multiple therapeutic endoscopic retrograde cholangiopancreatography, and she developed portal vein thrombosis.
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References
1. Condat B, Zanditenas D, Barbu V, et al Prevalence of low phospholipid associated cholelithiasis in young female patients Dig Liver Dis. 2013 Nov;45(11):915-9
2. Cardoso MF, Branco JC, Anapaz V, et al A Complex Case of Cholestasis in a Patient with ABCB4 and ABCB11 Mutations GE Port J Gastroenterol 2018;25:189–194
3. Miranda-Bautista J, Suárez-González J, Andrés-Zayas C, et al Familial low phospholipid associated cholelithiasis resulting from an autosomal dominant ABCB4 mutation Rev Esp Enferm Dig. 2019 Sep 20;111. doi: 10.17235/reed.2019.6334/2019
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Figueiredo L, Lourenço L, Horta D, Martins A. A complex case of low-phospholipid-associated cholelithiasis syndrome . 6625/2019


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Publication history

Received: 14/09/2019

Accepted: 30/09/2019

Online First: 16/06/2020

Published: 08/07/2020

Article revision time: 4 days

Article Online First time: 276 days

Article editing time: 298 days


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