Low phospholipid-associated cholelithiasis syndrome, a not uncommon cause of biliary problems and hospital admissions

biliary diseases are a major cause of morbidity and mortality for patients and a burden for the healthcare system. The genetic syndrome of low phospholipid-associated cholelithiasis (LPAC) is a little known and rare entity whose treatment with bile salts avoids symptoms, admissions and the need for surgery. The aim of this study was to determine its incidence and characteristics in our center.

prospective study performed between February 2021 and September 2022. LPAC was diagnosed if at least two of the following were present: onset of biliary problems < 40 years of age, recurrence of symptoms after cholecystectomy, ultrasound image of hepatolithiasis (multiple echoic foci, comet-tail images, hepatolithiasis with acoustic shadow). Demographic, clinical, genetic (analysis of MDR3 gene mutations) and ultrasound characteristics and their incidence were analyzed in hospital admissions for biliary causes.

thirty-six patients with LPAC were identified. Of these, six were among 237 admissions due to biliary causes in the previous nine months, with an incidence of 2.5 % (95 % CI: 1.17-5.41). By age subgroup, the incidence was 16.7 % in those admitted < 40 years of age and 9.1 % in those < 50. Considering females only, the incidence was 21 % in those admitted < 40 years and 15.8 % in those < 50 years. All patients remained asymptomatic after treatment with ursodeoxycholic acid and there were no new admissions.

LPAC syndrome is not as uncommon as it may appear, especially in women < 50 years of age admitted with biliary problems. Its correct diagnosis based on simple criteria could avoid a significant number of hospital admissions and unnecessary cholecystectomies.