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

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

Journal

JHEP reports : innovation in hepatology
ISSN: 2589-5559
Titre abrégé: JHEP Rep
Pays: Netherlands
ID NLM: 101761237

Informations de publication

Date de publication:
Apr 2021
Historique:
received: 08 04 2020
revised: 18 10 2020
accepted: 26 10 2020
entrez: 8 2 2021
pubmed: 9 2 2021
medline: 9 2 2021
Statut: epublish

Résumé

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. 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. 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 ( 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. 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.

Sections du résumé

BACKGROUND & AIMS OBJECTIVE
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 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 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 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 BACKGROUND
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.

Identifiants

DOI: 10.1016/j.jhepr.2020.100201 PMID: 33554096 PMC: PMC7848766
pubmed: 33554096
doi: 10.1016/j.jhepr.2020.100201
pii: S2589-5559(20)30135-X
pmc: PMC7848766
doi:

Types de publication

Journal Article

Langues

eng

Pagination

100201

Informations de copyright

© 2020 The Authors.

Déclaration de conflit d'intérêts

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

Références

Hepatology. 2013 Oct;58(4):1385-91
pubmed: 23564560
Nat Genet. 2015 May;47(5):435-44
pubmed: 25807286
J Visc Surg. 2019 Jun;156(3):209-215
pubmed: 30573436
J Visc Surg. 2019 Sep;156(4):319-328
pubmed: 30922600
Hum Mol Genet. 2000 May 1;9(8):1209-17
pubmed: 10767346
Insights Imaging. 2013 Jun;4(3):331-8
pubmed: 23591976
Rev Esp Enferm Dig. 2019 Oct;111(10):775-788
pubmed: 31538484
J Hepatol. 2017 Dec;67(6):1253-1264
pubmed: 28733223
Eur J Hum Genet. 2012 Mar;20(3):277-82
pubmed: 21989363
Orphanet J Rare Dis. 2007 Jun 11;2:29
pubmed: 17562004
Hepatology. 2013 Sep;58(3):1105-10
pubmed: 23533021
Dig Liver Dis. 2013 Nov;45(11):915-9
pubmed: 23684896
Nucleic Acids Res. 2012 Jul;40(Web Server issue):W452-7
pubmed: 22689647
Am J Hum Genet. 2017 Feb 2;100(2):267-280
pubmed: 28132688
Gastroenterology. 2001 May;120(6):1459-67
pubmed: 11313316
Lancet. 2002 Sep 7;360(9335):761-5
pubmed: 12241833
Gastroenterology. 2003 Aug;125(2):452-9
pubmed: 12891548
Bioinformatics. 2009 Nov 1;25(21):2744-50
pubmed: 19734154
Semin Liver Dis. 2018 Nov;38(4):299-307
pubmed: 30357767
Nat Methods. 2014 Apr;11(4):361-2
pubmed: 24681721
Lancet. 2006 Jul 15;368(9531):230-9
pubmed: 16844493
Nat Methods. 2010 Apr;7(4):248-9
pubmed: 20354512
Gastroenterology. 2016 Jan;150(1):156-167.e1
pubmed: 26375367
J Hepatol. 2020 Sep;73(3):651-663
pubmed: 32376413
Liver Int. 2010 Feb;30(2):327-31
pubmed: 19840255

Auteurs

Catherine Dong (C)

Reference Center for Inflammatory Biliary Diseases and Autoimmune Hepatitis, ERN RARE-LIVER, Saint-Antoine Hospital, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Paris, France.

Bertrand Condat (B)

Division of Gastroenterology and Hepatology, French Polynesia Hospital, Pirae, French Polynesia.
Association Nationale des Hépato-Gastroentérologues des Hôpitaux Généraux de France (ANGH), Montfermeil, France.
French National Cohort of Patients with LPAC syndrome (RaDiCo-COLPAC), RaDiCo, Inserm U933, Armand Trousseau Hospital, Paris, France.

Magalie Picon-Coste (M)

Association Nationale des Hépato-Gastroentérologues des Hôpitaux Généraux de France (ANGH), Montfermeil, France.
French National Cohort of Patients with LPAC syndrome (RaDiCo-COLPAC), RaDiCo, Inserm U933, Armand Trousseau Hospital, Paris, France.
Division of Gastroenterology and Hepatology, Aix-en-Provence Hospital, Aix-en-Provence, France.

Yves Chrétien (Y)

Reference Center for Inflammatory Biliary Diseases and Autoimmune Hepatitis, ERN RARE-LIVER, Saint-Antoine Hospital, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Paris, France.
Sorbonne University, INSERM, Centre de Recherche Saint-Antoine, Paris, France.

Pascal Potier (P)

Association Nationale des Hépato-Gastroentérologues des Hôpitaux Généraux de France (ANGH), Montfermeil, France.
French National Cohort of Patients with LPAC syndrome (RaDiCo-COLPAC), RaDiCo, Inserm U933, Armand Trousseau Hospital, Paris, France.
Division of Gastroenterology and Hepatology, Orléans Hospital, Orléans, France.

Béatrice Noblinski (B)

Radiology Department, Saint-Antoine Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.

Lionel Arrivé (L)

Sorbonne University, INSERM, Centre de Recherche Saint-Antoine, Paris, France.
Radiology Department, Saint-Antoine Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.

Marie-Pierre Hauuy (MP)

Radiology Department, Saint-Camille Hospital, Bry-sur-Marne, France.

Véronique Barbu (V)

Sorbonne University, INSERM, Centre de Recherche Saint-Antoine, Paris, France.
Molecular Biology and Genetics Laboratory, Saint-Antoine Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.

Anware Maftouh (A)

Visceral Surgery Department, Saint-Camille Hospital, Bry-sur-Marne, France.

Farid Gaouar (F)

Reference Center for Inflammatory Biliary Diseases and Autoimmune Hepatitis, ERN RARE-LIVER, Saint-Antoine Hospital, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Paris, France.

Karima Ben Belkacem (K)

Reference Center for Inflammatory Biliary Diseases and Autoimmune Hepatitis, ERN RARE-LIVER, Saint-Antoine Hospital, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Paris, France.
French National Cohort of Patients with LPAC syndrome (RaDiCo-COLPAC), RaDiCo, Inserm U933, Armand Trousseau Hospital, Paris, France.

Chantal Housset (C)

Reference Center for Inflammatory Biliary Diseases and Autoimmune Hepatitis, ERN RARE-LIVER, Saint-Antoine Hospital, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Paris, France.
Sorbonne University, INSERM, Centre de Recherche Saint-Antoine, Paris, France.

Raoul Poupon (R)

Reference Center for Inflammatory Biliary Diseases and Autoimmune Hepatitis, ERN RARE-LIVER, Saint-Antoine Hospital, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Paris, France.

David Zanditenas (D)

Association Nationale des Hépato-Gastroentérologues des Hôpitaux Généraux de France (ANGH), Montfermeil, France.
French National Cohort of Patients with LPAC syndrome (RaDiCo-COLPAC), RaDiCo, Inserm U933, Armand Trousseau Hospital, Paris, France.
Division of Gastroenterology and Hepatology, Saint-Camille Hospital, Bry-sur-Marne, France.

Olivier Chazouillères (O)

Reference Center for Inflammatory Biliary Diseases and Autoimmune Hepatitis, ERN RARE-LIVER, Saint-Antoine Hospital, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Paris, France.
French National Cohort of Patients with LPAC syndrome (RaDiCo-COLPAC), RaDiCo, Inserm U933, Armand Trousseau Hospital, Paris, France.
Sorbonne University, INSERM, Centre de Recherche Saint-Antoine, Paris, France.

Christophe Corpechot (C)

Reference Center for Inflammatory Biliary Diseases and Autoimmune Hepatitis, ERN RARE-LIVER, Saint-Antoine Hospital, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Paris, France.
French National Cohort of Patients with LPAC syndrome (RaDiCo-COLPAC), RaDiCo, Inserm U933, Armand Trousseau Hospital, Paris, France.
Sorbonne University, INSERM, Centre de Recherche Saint-Antoine, Paris, France.

Classifications MeSH