Kuloglu, ZarifeKansu, AydanSelbuz, SunaKalayci, Ayhan G.Sahin, GulserenKirsaclioglu, Ceyda TunaBalci Sezer, Oya2025-05-102025-05-1020190277-21161536-480110.1097/MPG.00000000000022242-s2.0-85062097685https://doi.org/10.1097/MPG.0000000000002224https://hdl.handle.net/20.500.14720/13590Tuna Kirsaclioglu, Ceyda/0000-0002-3551-7267; Kansu, Aydan/0000-0002-3133-9846; Emiroglu, Halil Haldun/0000-0002-1635-1150; Deveci, Ugur/0000-0003-4449-1190; Ozcay, Figen/0000-0002-5214-516X; Kuloglu, Zarife/0000-0001-9442-7790; Canan, Oguz/0000-0003-0614-4497; Eren, Makbule/0000-0002-7105-7165; Erdemir Eren, Gulin/0000-0002-9726-8219; Dogan, Yasar/0000-0001-9738-9611; Usta, Merve/0000-0002-5086-6270; Gumus, Meltem/0000-0002-9257-6597; Baran, Masallah/0000-0003-3827-2039Objectives: Evidence suggests that lysosomal acid lipase deficiency (LAL-D) is often underdiagnosed because symptoms may be nonspecific. We aimed to investigate the prevalence of LAL-D in children with unexplained liver disease and to identify demographic and clinical features with a prospective, multicenter, cross-sectional study. Methods: Patients (aged 3 months-18 years) who had unexplained transaminase elevation, unexplained hepatomegaly or hepatosplenomegaly, obesity-unrelated liver steatosis, biopsy-proven cryptogenic fibrosis and cirrhosis, or liver transplantation for cryptogenic cirrhosis were enrolled. A Web-based electronic data collection system was used. LAL activity (nmol/punch/h) was measured using the dried blood spot method and classified as LAL-D(<0.02), intermediate (0.02-0.37) or normal (>0.37). Asecond dried blood spot sample was obtained from patients with intermediate LAL activity for confirmation of the result. Results: A total of 810 children (median age 5.6 years) from 795 families were enrolled. The reasons for enrollment were unexplained transaminase elevation (62%), unexplained organomegaly (45%), obesity-unrelated liver steatosis (26%), cryptogenic fibrosis and cirrhosis (6%), and liver transplantation for cryptogenic cirrhosis (<1%). LAL activity was normal in 634 (78%) and intermediate in 174 (21%) patients. LAL-D was identified in 2 siblings aged 15 and 6 years born to unrelated parents. Dyslipidemia, liver steatosis, and mild increase in aminotransferases were common features in these patients. Moreover, the 15-year-old patient showed growth failure and microvesicular steatosis, portal inflammation, and bridging fibrosis in the liver biopsy. Based on 795 families, 2 siblings in the same family were identified as LAL-D cases, making the prevalence of LAL-D in this study population, 0.1% (0.125%-0.606%). In the repeated measurement (76/174), LAL activity remained at the intermediate level in 38 patients. Conclusions: Overall, the frequency of LAL-D patients in this study (0.1%) suggests that LAL-D seems to be rare even in the selected high-risk population.eninfo:eu-repo/semantics/openAccessChildrenLiverLysosomal Acid Lipase DeficiencyArticle683Q2Q237137630540705WOS:000461077600024