Prevalence, genetic variants, and clinical implications of hypocholesterolemia in children

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. This national prospective cross-sectional cohort study was part...

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Bibliographic Details
Published in:Atherosclerosis 2025-01, Vol.400, p.119065, Article 119065
Main Authors: Groselj, Urh, Kafol, Jan, Molk, Neza, Sedej, Katarina, Mlinaric, Matej, Sikonja, Jaka, Sustar, Ursa, Kern, Barbara Cugalj, Kovac, Jernej, Battelino, Tadej, Debeljak, Marusa
Format: Article
Language:English
Subjects:
Adolescent
Age Factors
APOB
Apolipoprotein B-100 - blood
Apolipoprotein B-100 - genetics
Biomarkers - blood
Child
Child, Preschool
Children
Cholesterol - blood
Cholesterol, LDL - blood
Cross-Sectional Studies
Female
Genetic Predisposition to Disease
Genetic Testing - methods
Humans
Hypercholesterolemia - blood
Hypercholesterolemia - diagnosis
Hypercholesterolemia - epidemiology
Hypercholesterolemia - genetics
Hypocholesterolemia
Male
Mutation
Next-generation sequencing
Phenotype
Prevalence
Proprotein Convertase 9 - genetics
Prospective Studies
Risk Factors
Slovenia - epidemiology
Citations: Items that this one cites
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Description
Summary: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. 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] 
ISSN:0021-9150
1879-1484
1879-1484
DOI:10.1016/j.atherosclerosis.2024.119065