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Dong C, Condat B, Picon-Coste M, et al. Low-phospholipid-associated cholelithiasis syndrome: Prevalence, clinical features, and comorbidities. JHEP Rep. 2020;3(2):100201doi: 10.1016/j.jhepr.2020.100201.
Dong, C., Condat, B., Picon-Coste, M., Chrétien, Y., Potier, P., Noblinski, B., Arrivé, L., Hauuy, M. P., Barbu, V., Maftouh, A., Gaouar, F., Ben Belkacem, K., Housset, C., Poupon, R., Zanditenas, D., Chazouillères, O., & Corpechot, C. (2021). Low-phospholipid-associated cholelithiasis syndrome: Prevalence, clinical features, and comorbidities. JHEP reports : innovation in hepatology, 3(2), 100201. https://doi.org/10.1016/j.jhepr.2020.100201
Dong, Catherine, et al. "Low-phospholipid-associated cholelithiasis syndrome: Prevalence, clinical features, and comorbidities." JHEP reports : innovation in hepatology vol. 3,2 (2021): 100201. doi: https://doi.org/10.1016/j.jhepr.2020.100201
Dong C, Condat B, Picon-Coste M, Chrétien Y, Potier P, Noblinski B, Arrivé L, Hauuy MP, Barbu V, Maftouh A, Gaouar F, Ben Belkacem K, Housset C, Poupon R, Zanditenas D, Chazouillères O, Corpechot C. Low-phospholipid-associated cholelithiasis syndrome: Prevalence, clinical features, and comorbidities. JHEP Rep. 2020 Nov 06;3(2):100201. doi: 10.1016/j.jhepr.2020.100201. eCollection 2021 Apr. PMID: 33554096; PMCID: PMC7848766.
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JHEP Rep. 2020 Nov 06;3(2):100201. doi: 10.1016/j.jhepr.2020.100201. eCollection 2021 Apr.

Low-phospholipid-associated cholelithiasis syndrome: Prevalence, clinical features, and comorbidities.

JHEP reports : innovation in hepatology

Catherine Dong, Bertrand Condat, Magalie Picon-Coste, Yves Chrétien, Pascal Potier, Béatrice Noblinski, Lionel Arrivé, Marie-Pierre Hauuy, Véronique Barbu, Anware Maftouh, Farid Gaouar, Karima Ben Belkacem, Chantal Housset, Raoul Poupon, David Zanditenas, Olivier Chazouillères, Christophe Corpechot

Affiliations

  1. Reference Center for Inflammatory Biliary Diseases and Autoimmune Hepatitis, ERN RARE-LIVER, Saint-Antoine Hospital, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Paris, France.
  2. Division of Gastroenterology and Hepatology, French Polynesia Hospital, Pirae, French Polynesia.
  3. Association Nationale des Hépato-Gastroentérologues des Hôpitaux Généraux de France (ANGH), Montfermeil, France.
  4. French National Cohort of Patients with LPAC syndrome (RaDiCo-COLPAC), RaDiCo, Inserm U933, Armand Trousseau Hospital, Paris, France.
  5. Division of Gastroenterology and Hepatology, Aix-en-Provence Hospital, Aix-en-Provence, France.
  6. Sorbonne University, INSERM, Centre de Recherche Saint-Antoine, Paris, France.
  7. Division of Gastroenterology and Hepatology, Orléans Hospital, Orléans, France.
  8. Radiology Department, Saint-Antoine Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.
  9. Radiology Department, Saint-Camille Hospital, Bry-sur-Marne, France.
  10. Molecular Biology and Genetics Laboratory, Saint-Antoine Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.
  11. Visceral Surgery Department, Saint-Camille Hospital, Bry-sur-Marne, France.
  12. Division of Gastroenterology and Hepatology, Saint-Camille Hospital, Bry-sur-Marne, France.

PMID: 33554096 PMCID: PMC7848766 DOI: 10.1016/j.jhepr.2020.100201

Abstract

BACKGROUND & AIMS: Low-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.

METHODS: We 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.

RESULTS: In 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 (

CONCLUSIONS: In 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.

© 2020 The Authors.

Keywords: ABCB4; ABCB4, ATP-binding cassette subfamily B member 4; CBD, common bile duct; Cancer; Cholestasis; ERCP, endoscopic retrograde cholangiopancreatography; FDR, false discovery rate; GGT, gamma-glutamyltransferase; ICP, intrahepatic cholestasis of pregnancy; LPAC; LPAC, low-phospholipid-associated cholelithiasis; MRCP, magnetic resonance cholangiopancreatography; Metabolic syndrome; Pregnancy; UDCA, ursodeoxycholic acid

Conflict of interest statement

The authors declare no conflicts of interest that pertain to this study. Please refer to the accompanying ICMJE disclosure forms for further details.

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