20.500.12556/RUL-167726 Prevalence, genetic variants, and clinical implications of hypocholesterolemia in children Background and aims: In contrast to extensively studied hypercholesterolemia, knowledge of hypocholesterolemia is limited. This study aims to assess the prevalence, clinical characteristics, and genetics of children and adolescents with hypocholesterolemia. Methods: This national prospective cross-sectional cohort study was part of Slovenia's universal opt-out cholesterol screening program. The first part assessed hypocholesterolemia prevalence among 3538 children aged 5 years, randomly selected at the mandatory check-up. The second part included analysis of demographic and clinical data and genetic testing of 71 individuals with suspected hypocholesterolemia (total cholesterol [TC] < 3.0 mmol/L [116.0 mg/dL]) referred to the Lipid Clinic of University Children's Hospital Ljubljana. Results: The prevalence of hypocholesterolemia among 3538 children was 2.66 % (95 % CI: 2.13-3.19 %). Among the 71 genetically tested individuals with suspected hypocholesterolemia, those with pathogenic variants had lower TC (2.58 ± 0.44 mmol/L vs. 2.85 ± 0.42 mmol/L [99.77 ± 17.02 mg/dL vs. 110.20 ± 16.24 mg/dL]; p = 0.037) and low-density lipoprotein cholesterol (1.00 ± 0.40 mmol/L vs. 1.33 ± 0.40 mmol/L [38.67 ± 15.47 mg/dL vs. 51.43 ± 15.47 mg/dL]; p = 0.014) compared to those without such variants. Genetic testing identified pathogenic alterations in 15 subjects, including 4 novel loss-of-function variants in the APOB gene. All but one subject were asymptomatic. Conclusions: This study provides new clinical and genetic insights into hypocholesterolemia. Asymptomatic patients with hypocholesterolemia may not require further evaluation, but additional research is needed to understand hypocholesterolemia better. APOB children hypocholesterolemia next-generation sequencing prevalence otroci hipoholesterolemija sekvenciranje naslednje generacije prevalenca true false true Angleški jezik Slovenski jezik Članek v reviji 2025-03-10 09:14:14 2025-03-10 09:14:20 2025-03-11 04:03:04 0000-00-00 00:00:00 2025 0 0 6 str. Vol. 400, art. 119065 2025 0000-00-00 Zaloznikova Objavljeno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 616.4-053.2 1879-1484 10.1016/j.atherosclerosis.2024.119065 228354563 1-s2.0-S0021915024012371-main.pdf 1-s2.0-S0021915024012371-main.pdf 1 4E6802EF0A29B861F6D51C631D2735F7 fb086c268827ddf8b2f34aa0c7da9ca7ec7853fe6072481b93fe3353e23f5f10 0f831e31-fd87-11ef-b232-0050569b8976 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=200447 https://www.sciencedirect.com/science/article/pii/S0021915024012371 0 50a0865b-fd87-11ef-b232-0050569b8976 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=200448 https://www.atherosclerosis-journal.com/article/S0021-9150(24)01237-1/fulltext 1 b412b48c-fd86-11ef-b232-0050569b8976 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=200446 Medicinska fakulteta 0 0 0