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

Abstract Background & Aims Low-phospholipid associated cholelithiasis (LPAC) syndrome, a rare genetic form of intrahepatic cholelithiasis in adults, is still poorly known. 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 centers. Controls consisted of all patients who underwent a cholecystectomy for common gallstone disease in a single non-academic center over one 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 308 cases and 206 controls were included. LPAC syndrome accounted for 0.5% to 1.9% of all patients admitted with symptomatic gallstone disease. Age at first symptoms 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. ABCB4 gene variations in LPAC patients were associated with CBD lithiasis, chronic cholestasis, and personal or family history of hepato-biliary cancer.