ArticleJHEP reports : innovation in hepatology2021
Low-phospholipid-associated cholelithiasis syndrome: Prevalence, clinical features, and comorbidities.
Article in JHEP reports : innovation in hepatology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 62 citations in OpenAlex.
- PSC-DM: A Validated Clinical Diagnostic Model for Distinguishing Primary From Secondary Sclerosing Cholangitis.Liver international : official journal of the International Association for the Study of the Liver · 2026Article
- Low Phospholipid-Associated Cholelithiasis in a Mother-Son Pair Associated With a NovelClinical case reports · 2026Article
- Genetic testing in liver diseases: Clinical applications.JHEP reports : innovation in hepatology · 2026Review
- Intrahepatic lithiasis in Western populations: an underrecognized diagnosis and its mimickers.Abdominal radiology (New York) · 2026Review
- Delayed Diagnosis of Low Phospholipid-Associated Cholelithiasis Syndrome, Consideration of DHCR7 Mutations.ACG case reports journal · 2026Article
- Beyond the Pump: The Evolving Molecular Landscape of Intrahepatic Cholestasis.Diagnostics (Basel, Switzerland) · 2026Review
- ATP-binding Cassette Transporter Defects and Their Roles in Hepatic Diseases.Journal of clinical and translational hepatology · 2026Review
- Challenges in the diagnosis and treatment of genetic cholestasis in adults.JHEP reports : innovation in hepatology · 2026Review
- The history and future of bile acid therapies.Journal of hepatology · 2025Article
- Low Phospholipid-Associated Cholelithiasis Syndrome: A Case Report of Chronic Recurrent Cholangitis Post-Cholecystectomy Course.Clinical case reports · 2025Article
- Primary intrahepatic lithiasis in western countries: role of ultrasound and comparison with MRI with MRCP.European journal of gastroenterology & hepatology · 2025Article
- Laparoscopic intercostal segment 7 resection for intrahepatic lithiasis due to low phospholipid-associated cholelithiasis syndrome. A case report.International journal of surgery case reports · 2025Article
- The RaDiCo information system for rare disease cohorts.Orphanet journal of rare diseases · 2025Article
- A family with gallstone disease: defining inherited risk in the era of clinical genetic testing.Internal and emergency medicine · 2025Article
- Genetics of Gallstones.Genes · 2025Review
- Genotypes and different clinical variants between children and adults in progressive familial intrahepatic cholestasis: a state-of-the-art review.Orphanet journal of rare diseases · 2025Review
- Relationship between Abnormal Lipid Metabolism and Gallstone Formation.The Korean journal of gastroenterology = Taehan Sohwagi Hakhoe chi · 2025Review
- Ursodeoxycholic acid treatment of LPAC presenting as post cholecystectomy pain: rationale and design of a randomised trial.Translational gastroenterology and hepatology · 2025Article
- Liver imaging and pregnancy: what to expect when your patient is expecting.Insights into imaging · 2024Review
- Cholelithiasis is an additional pre-pregnancy clinical risk factor for preeclampsia.Archives of gynecology and obstetrics · 2023Article
Corrections and comments
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Authors and funding
17 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND &
aimsLow-phospholipid-associated cholelithiasis (LPAC) syndrome, a rare genetic form of intrahepatic cholelithiasis in adults, is still poorly understood. We report the results of the largest-ever case-control study of patients with LPAC syndrome aiming to assess the prevalence, clinical features, and comorbidities of the disease.
methodsWe included all LPAC cases diagnosed between 2001 and 2016 in 11 French centres. Controls consisted of all patients who underwent a cholecystectomy for common gallstone disease in a single non-academic centre over 1 year. A logistic regression analysis was used to identify the clinical features associated with LPAC syndrome across several patient strata with increasing levels of diagnostic confidence. The ratio between the incident cases of LPAC syndrome and the total number of cholecystectomies for gallstones was used to assess the relative prevalence of the disease.
resultsIn this study, 308 cases and 206 controls were included. LPAC syndrome accounted for 0.5-1.9% of all patients admitted with symptomatic gallstone disease. Age at first symptoms <40 years, absence of overweight, persistence of symptoms after cholecystectomy, intrahepatic micro- or macrolithiasis, common bile duct (CBD) lithiasis, and no history of cholecystitis were independently associated with LPAC diagnosis. ATP-binding cassette subfamily B member 4 (
conclusionsIn this case-control study, LPAC syndrome accounted for approximately 1% of symptomatic cholelithiasis in adults. In addition to pre-established diagnostic criteria, normal weight, CBD lithiasis, and no history of cholecystitis were significantly associated with the syndrome. LAY SUMMARY: In the largest case-control study ever conducted in patients with LPAC syndrome, a rare genetic form of intrahepatic cholelithiasis in young adults, LPAC syndrome was found in approximately 1% of all patients admitted to the hospital for symptomatic gallstones and, in addition to the pre-established characteristics of the syndrome (age at first symptoms <40 years, recurrence of symptoms after cholecystectomy, and/or imaging evidence of intrahepatic microlithiasis), was associated with lower BMI, higher prevalence of common bile duct stones, and lower incidence of acute cholecystitis.
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