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Updated: May 29, 2026

Cholesterol Efflux Assay
Published on: March 6, 2012
Paediatric screening for hypercholesterolaemia in Europe
D M Kusters1, C de Beaufort, K Widhalm
1Department of Pediatrics, Academic Medical Center, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.
Insights
Current (familial) hypercholesterolaemia screening in children has low adherence and misses many at-risk youth. Universal screening from ages 1-9 may improve early detection of this inherited condition.
Area of Science:
- Pediatrics
- Cardiology
- Genetics
Background:
- Current screening strategies for familial hypercholesterolaemia (FH) in children exhibit low adherence and compliance.
- Existing methods often fail to identify a significant number of children at risk for early coronary artery disease.
Purpose of the Study:
- To evaluate the effectiveness of current screening strategies for FH in children.
- To identify optimal screening approaches for early detection and management of FH in pediatric populations.
Main Methods:
- A comprehensive literature review was conducted.
- Analysis focused on recommended screening protocols, tools, and their limitations in Europe.
- Assessment included the precision of selective screening based on family history.
Main Results:
- Selective screening strategies, primarily family history-based, lack precision in identifying children with FH.
- A substantial proportion of children with FH, at risk for future cardiovascular disease, remain undetected.
- Current European screening tools and strategies have documented negative aspects.
Conclusions:
- Recommended selective screening for FH in children is imprecise and identifies only a fraction of affected individuals.
- Universal screening of children aged 1-9 years is proposed as a more sensitive and specific strategy.
- The clinical efficacy of universal screening for FH in children requires further validation.
Abstract:
Different screening strategies are currently recommended to identify children with (familial) hypercholesterolaemia in order to initiate early lipid management. However, these strategies are characterised to date by low adherence by the medical community and limited compliance by parents and children. In a literature review, the authors assess which children should undergo screening and which children are in effect identified through the currently recommended strategies. Furthermore, the authors discuss the different screening tools and strategies currently used in Europe and what is known about the negative aspects of screening. The authors conclude that currently recommended selective screening strategies, which are mainly based on family history, lack precision and that a large percentage of affected children who are at increased risk of future coronary artery disease are not being identified. The authors propose universal screening of children between 1 and 9 years of age, a strategy likely to be most effective in terms of sensitivity and specificity for the identification of children with familial hypercholesterolaemia. However, this concept has yet to be proven in clinical practice.
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