Low-phospholipid-associated cholelithiasis syndrome: Prevalence, clinical features, and comorbidities
| Autor: | Bertrand Condat, Yves Chrétien, Magalie Picon-Coste, Olivier Chazouillères, David Zanditenas, Lionel Arrivé, Chantal Housset, Pascal Potier, Karima Ben Belkacem, Farid Gaouar, Catherine Dong, Marie-Pierre Hauuy, Raoul Poupon, Anware Maftouh, Véronique Barbu, Christophe Corpechot, Béatrice Noblinski |
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| Přispěvatelé: | HAL-SU, Gestionnaire, Centre de Recherche Saint-Antoine (CRSA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Centre de Référence des Maladies Rares - Maladies Inflammatoires des Voies Biliaires et Service d’Hépatologie [CHU Saint-Antoine], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Maladies génétiques d'expression pédiatrique [CHU Trousseau] (Inserm U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de Radiologie [CHU Saint-Antoine], Hôpital Saint Camille, Centre de Recherche Saint-Antoine (CR Saint-Antoine), Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Saint-Antoine [AP-HP], Physiopathologie des maladies génétiques d'expression pédiatrique (UMRS_933), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU) |
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Pediatrics
medicine.medical_specialty FDR false discovery rate medicine.medical_treatment CBD common bile duct UDCA ursodeoxycholic acid 03 medical and health sciences 0302 clinical medicine Cholestasis Pregnancy Internal Medicine Immunology and Allergy Medicine LPAC Young adult Family history lcsh:RC799-869 ICP intrahepatic cholestasis of pregnancy MRCP magnetic resonance cholangiopancreatography 030304 developmental biology Cancer 0303 health sciences Endoscopic retrograde cholangiopancreatography Hepatology medicine.diagnostic_test LPAC low-phospholipid-associated cholelithiasis business.industry GGT gamma-glutamyltransferase Gastroenterology [SDV.MHEP.HEG]Life Sciences [q-bio]/Human health and pathology/Hépatology and Gastroenterology Gallstones ABCB4 medicine.disease Metabolic syndrome [SDV.MHEP.HEG] Life Sciences [q-bio]/Human health and pathology/Hépatology and Gastroenterology 3. Good health Cholecystitis 030211 gastroenterology & hepatology Cholecystectomy lcsh:Diseases of the digestive system. Gastroenterology ABCB4 ATP-binding cassette subfamily B member 4 business Research Article ERCP endoscopic retrograde cholangiopancreatography |
| Zdroj: | JHEP Reports Innovation in Hepatology JHEP Reports Innovation in Hepatology, 2021, 3 (2), pp.100201. ⟨10.1016/j.jhepr.2020.100201⟩ JHEP Reports Innovation in Hepatology, Elsevier, 2021, 3 (2), pp.100201. ⟨10.1016/j.jhepr.2020.100201⟩ JHEP Reports, Vol 3, Iss 2, Pp 100201-(2021) JHEP Reports |
| ISSN: | 2589-5559 |
| DOI: | 10.1016/j.jhepr.2020.100201 |
| Popis: | 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 Graphical abstract Highlights • Low-phospholipid-associated cholelithiasis (LPAC) syndrome affects approximately 1% of adults with symptomatic cholelithiasis. • Normal weight, common bile duct stones, and lack of cholecystitis are clinical features significantly associated with this syndrome. • ABCB4 variants in patients with LPAC may be associated with an increased personal or family risk of hepato-biliary cancer. |
| Databáze: | OpenAIRE |
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