Year 2024 / Volume 116 / Number 10
Original
Low phospholipid-associated cholelithiasis syndrome, a not uncommon cause of biliary problems and hospital admissions

532-538

DOI: 10.17235/reed.2024.10425/2024

Isabel María Spigarelli, Beatriz Pillado, David Vincent, Joaquín Poza Cordón, Marta Abadía, Gloria Ruiz-Fernández, Eva Marín, Pilar Castillo Grau, Benjamín Polo, Antonio Olveira Martín,

Abstract
Background and aims: 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. Methods: 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. Results: 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. Conclusions: 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.
Lay Summary
A prospective study was conducted to determine the incidence and characteristics of LPAC syndrome, a little known genetic disorder that causes the formation of hepatolithiasis and biliary problems, especially in young patients. A total of 36 patients with LPAC were identified according to established clinical and diagnostic criteria. These included the onset of biliary problems before the age of 40 years, the recurrence of symptoms after cholecystectomy, and the presence of hepatolithiasis on ultrasound. The incidence of LPAC syndrome among admissions for biliary causes was 2.5%. This was found to be more prevalent among young patients and women. Specifically, LPAC syndrome was the cause of 16.7% of admissions in patients under 40 years of age and 21% in women under 40 years of age. The administration of ursodeoxycholic acid proved to be an efficacious treatment, effectively preventing recurrences and new hospitalizations. Therefore, LPAC is not as uncommon as it might appear, particularly among young women with biliary problems. It is essential to consider this diagnosis, as a correct diagnosis based on simple criteria could avoid numerous hospitalizations and unnecessary surgeries.
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Spigarelli I, Pillado B, Vincent D, Poza Cordón J, Abadía M, Ruiz-Fernández G, et all. Low phospholipid-associated cholelithiasis syndrome, a not uncommon cause of biliary problems and hospital admissions. 10425/2024


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Publication history

Received: 24/03/2024

Accepted: 04/05/2024

Online First: 14/06/2024

Published: 09/10/2024

Article revision time: 31 days

Article Online First time: 82 days

Article editing time: 199 days


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