Childhood Screening for Familial Hypercholesterolemia JACC Review Topic of the Week

Screening for familial hypercholesterolemia (FH) in childhood remains controversial. Existing guidelines offer practitioners conflicting advice despite generally agreeing on the evidence and areas in which evidence is lacking, including a lack of long-term clinical trials demonstrating coronary event reduction as a result of screening and long-term data on statin side effects. A limitation of existing evidence-based frameworks is reliance on 1 evidence grading system to determine recommendations. However, rigorous evidence evaluation alternatives relevant to FH exist. FH is considered a tier 1 genetic condition, meaning that identification and treatment will improve health outcomes among those affected. Elevated low-density lipoprotein cholesterol, the primary consequence of FH, can be considered causal for atherosclerosis and coronary heart disease. Incorporating these concepts into existing evidence pathways allows the inclusion of surrogate clinical trial outcomes (low-density lipoprotein cholesterol reduction and atherosclerosis regression) and observational data on medication safety, strengthening the evidence for pediatric screening for FH.(J Am Coll Cardiol 2023;82:1558-1563) (c) 2023 by the American College of Cardiology Foundation.

Automated summary

Screening for familial hypercholesterolemia (FH) in childhood is a controversial topic, with existing guidelines offering conflicting advice. Although there is general agreement on the evidence and areas where evidence is lacking, there is a limitation in existing evidence-based frameworks. FH is considered a tier 1 genetic condition, and incorporating concepts such as low-density lipoprotein cholesterol reduction and atherosclerosis regression can strengthen the evidence for pediatric screening for FH.