Child-Parent Screening for Familial Hypercholesterolemia Feasible in Primary Care

HealthDay News — Screening for hypercholesterolemia is feasible at routine child immunization visits in primary care practices, according to a study published in the New England Journal of Medicine.

David S. Wald, MBBS, from the Wolfson Institute of Preventive Medicine at Queen Mary University of London, and colleagues obtained capillary blood samples to measure cholesterol levels and test for familial hypercholesterolemia mutations in 10,095 children aged 1 to 2 years. The authors examined the efficacy and feasibility of screening in primary care practice.

The researchers found that 28 children (0.3%) were identified who had positive screening results for familial hypercholesterolemia using a prespecified cholesterol cut-off value of 1.53 multiples of the median (MoM), including 20 with a familial hypercholesterolemia mutation and 8 with a repeat cholesterol level of at least 1.53 MoM. 

Overall, 17 children had a cholesterol level of less than 1.53 MoM and had a familial hypercholesterolemia mutation. The overall prevalence of mutation was one in 273 children. Use of an initial cholesterol cut-off value of 1.35 MoM plus a mutation or 2 cholesterol values of 1.50 MoM or more identified 40 children with positive screening results for familial hypercholesterolemia (0.4%) and 40 parents with positive screening results for familial hypercholesterolemia.

“Child-parent screening was feasible in primary care practices at routine child immunization visits,” the researchers wrote.

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  1. Wald DS, Bestwick JP, Morris JK, Whyte K, Jenkins L, Wald NJ. Child–parent familial hypercholesterolemia screening in primary care. N Engl J Med. 2016375:1628-1637. doi:10.1056/NEJMoa1602777.