Low-phospholipid-associated cholelithiasis syndrome (LPAC) is associated with ABCB4 genetic mutation. ABCB4 encodes MDR3 protein, involved in biliary phosphatidylcholine excretion.Higher prevalence in women, biliary symptoms in young adults and ursodesoxycholic acid (UDCA) response are the main features. We report the case of a 48-year-old man with hepatitis C, genotype 1b, fibrosis F3, null responder to Peg-IFN-alpha-2b/ribavirin and nephritic colic. In 2011 he developed jaundice, pruritus and epigastric pain.He showed increased serum levels of AST, ALT, GGT, bilirubin and alpha-fetoprotein, and viral load (14,600,000 IU/mL). Pancreatic- CT, endoscopic ultrasonography and echo-Doppler showed noncirrhotic chronic liver disease. The episode resolved spontaneously and one year later he suffered a similar episode. UDCA was started with excellent response. An immunohistochemistry study and sequencing of ABCB4 did not find alteration. MLPA® technique detected heterozygous deletion of the full exon 4 confirming LPAC syndrome diagnosis.
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Current approach to diagnosis and management of low-phospholipid associated cholelithiasis syndrome.
Curr Opin Gastroenterol
January 2025
Reference Center for Inflammatory Biliary Diseases and Autoimmune Hepatitis, European Reference Network on Hepatological Diseases (ERN Rare-Liver), Saint-Antoine Hospital, Assistance Publique - Hôpitaux de Paris; Sorbonne University, INSERM, Saint-Antoine Research Center (CRSA).
Purpose Of Review: Low phospholipid-associated cholelithiasis (LPAC) syndrome is a rare genetic form of intrahepatic cholesterol lithiasis, affecting mainly young adults. This review describes the recent advances in genetic and clinical characterization, diagnosis and management of LPAC syndrome.
Recent Findings: Recent publications report data from several retrospective cohorts.
Article Synopsis
- LPAC (Low Phospholipid-Associated Cholelithiasis) is a rare genetic syndrome that contributes to biliary diseases, and its treatment with bile salts can prevent symptoms and surgeries.
- A study conducted from February 2021 to September 2022 identified 36 LPAC patients, indicating an incidence rate of 2.5% among hospital admissions for biliary causes, with higher rates in younger patients and women.
- Correctly diagnosing LPAC using straightforward criteria could reduce unnecessary hospital admissions and surgeries, particularly in women under 50 experiencing biliary issues.
Endoscopic features of low-phospholipid-associated cholelithiasis syndrome: A retrospective cohort study.
Clin Res Hepatol Gastroenterol
May 2024
Sorbonne University, Hepatogastroenterology - Endoscopy unit, Saint-Antoine Hospital and Research Center, Assistance Publique - Hopitaux de Paris, Paris, France.
Background And Objective: LPAC (low phospholipid-associated cholelithiasis) syndrome is a rare genetic form of cholelithiasis. ERCP (endoscopic retrograde cholangiopancreatography) is often used to remove gallstones in the bile duct. No published data is available on the role of ERCP in LPAC syndrome.
View Article and Find Full Text PDFConsiderations for Low Phospholipid-Associated Cholelithiasis (LPAC) Syndrome: Report of Three Cases.
Cureus
October 2023
Gastroenterology and Hepatology, University Hospital Souss Massa, University Ibn Zohr, Faculty of Medicine and Pharmacy, Agadir, MAR.
Low phospholipid-associated cholelithiasis (LPAC) syndrome is a rare underdiagnosed genetic feature presenting less than 1% of symptomatic cholelithiasis, with variable clinical forms ranging from simple to complications. Diagnosis criteria are recurrent biliary symptomatology occurring in young patients (<40 years old) and/or recurrence after cholecystectomy and/or having a history of biliary gallstones in first-degree relatives and characteristic ultrasound findings. Early detection of this entity, due to the awareness of gastroenterologists, radiologists, and visceral surgeons, will allow an improvement in the quality of life of patients and the prevention of complications.
View Article and Find Full Text PDFObeticholic acid as a second-line treatment for low phospholipid-associated cholelithiasis syndrome.
Aliment Pharmacol Ther
January 2024
Reference Center for Inflammatory Biliary Diseases and Autoimmune Hepatitis, European Reference Network on Hepatological Diseases (ERN Rare-Liver), Saint-Antoine Hospital, Assistance Publique - Hôpitaux de Paris, Paris, France.
Background: Low phospholipid-associated cholelithiasis (LPAC) syndrome is a rare genetic cause of hepatolithiasis. A pathogenic variant of the ABCB4 gene is reported in half of all patients. Ursodeoxycholic acid (UDCA) is the only drug approved.
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