Urh Grošelj (Author), Jan Kafol (Author), Neža Molk (Author), Katarina Sedej (Author), Matej Mlinarič (Author), Jaka Šikonja (Author), Urša Šuštar (Author), Barbara Čugalj Kern (Author), Jernej Kovač (Author), Tadej Battelino (Author), Maruša Debeljak (Author)

Abstract

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.

Keywords

APOB;children;hypocholesterolemia;next-generation sequencing;prevalence;

Data

Language: English
Year of publishing:
Typology: 1.01 - Original Scientific Article
Organization: UL MF - Faculty of Medicine
UDC: 616.4-053.2
COBISS: 228354563 Link will open in a new window
ISSN: 1879-1484
Views: 28
Downloads: 13
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Other data

Secondary language: Slovenian
Secondary keywords: otroci;hipoholesterolemija;sekvenciranje naslednje generacije;prevalenca;
Type (COBISS): Article
Pages: str. 1-6
Issue: ǂVol. ǂ400, [article no.] 119065
Chronology: Jan 2025
DOI: 10.1016/j.atherosclerosis.2024.119065
ID: 26039389
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