20.500.12556/DiRROS-28853 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 Neznano 2026-04-09 13:05:05 2026-04-09 13:05:06 2026-04-10 03:55:40 0000-00-00 00:00:00 2025 0 0 Nasl. z nasl. zaslona; Opis vira z dne 7. 3. 2025; str. 1-6 Vol. 400, [article no.] 119065 Jan 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 RAZ_Groselj_Urh_2025.pdf RAZ_Groselj_Urh_2025.pdf 1 7CEB4278322041AFE4E1798E6DB88F3E e965702de434cdd781901ea5747626f6ca0d66020ca7219065ad63d0199558ce 332dbbdd-3404-11f1-b941-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=43002 https://www.atherosclerosis-journal.com/article/S0021-9150(24)01237-1/fulltext 1 fa692287-3403-11f1-b941-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=43001 Univerzitetni klinični center Ljubljana 0 0 0