Child–parent screening is effective and feasible to detect familial hypercholesterolaemia (FH) in primary care practice, according to a new study involving 10,095 children aged 1–2 years. A screening strategy of a cholesterol level ≥1.53 multiples of the median (MoM), plus either the presence of an FH-associated mutation or a repeat elevated cholesterol level 3 months later, identified 28 children (0.3% of the total) with a positive result for FH. Using a cut-off value of 1.35 MoM plus a mutation, or two cholesterol readings ≥1.50 MoM, identified 40 children (0.4%) with a positive screening result for FH and, therefore, a high risk of cardiovascular disease.
References
Wald, D. S. et al. Child–parent familial hypercholesterolemia screening in primary care. N. Engl. J. Med. 375, 1628–1637 (2016)
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Ummarino, D. Optimizing child–parent screening for FH. Nat Rev Cardiol 14, 2 (2017). https://doi.org/10.1038/nrcardio.2016.187
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DOI: https://doi.org/10.1038/nrcardio.2016.187
