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[Is the detection of familial hypercholesterolemia in children indicated? Occasionally, yes]
1TNO Preventie en Gezondheid, Gaubiuslaboratorium, Leiden.
Insights
Screening children for familial hypercholesterolaemia (FH) is beneficial only when early, effective treatment and family history of early ischaemic heart disease are present. Otherwise, potential harms of early intervention may outweigh uncertain benefits.
Area of Science:
- Cardiovascular Medicine
- Genetics
- Pediatrics
Context:
- Familial hypercholesterolaemia (FH) is a genetic disorder leading to high cholesterol levels.
- Early detection in children is crucial for managing cardiovascular risk.
- Screening protocols need careful consideration of benefits versus risks.
Purpose:
- To evaluate the utility of screening for familial hypercholesterolaemia (FH) in children.
- To define the criteria under which pediatric FH screening is most beneficial.
- To assess the balance between intervention benefits and potential psychological drawbacks.
Summary:
- Pediatric screening for FH is indicated when prompt, effective treatment is available and there is a family history of early-onset ischaemic heart disease.
- In the absence of these factors, the psychological impact and uncertain benefits of early intervention may outweigh advantages.
- The investigation for homozygous FH necessitates parental cholesterol assessment, with similar considerations applying if FH is absent in parents.
Impact:
- Informs clinical guidelines for pediatric FH screening.
- Highlights the importance of a family-centered approach in genetic disorder management.
- Emphasizes personalized medicine based on individual risk and treatment availability.
Abstract:
Searching for familial hypercholesterolaemia (FH) in children is useful only if efficacious treatment is to be administered shortly and if there are relatives with ischaemic heart disease at very early ages. In all other cases, the (psychological) drawbacks probably outweigh the doubtful benefit of early intervention. The search for the major homozygous form of FH begins with cholesterol assay in both parents, in the absence of FH in either of them, the above-named restrictions apply.