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Child-parent screening for familial hypercholesterolemia during routine immunization visits offers benefits

Testing both parents and children for familial hypercholesterolemia during regular immunization visits can identify patients at high risk for premature cardiovascular disease, according to research recently published in The New England Journal of Medicine.

“We sought to overcome these limitations [of previous studies] and assess the feasibility and efficacy of child-parent familial hypercholesterolemia screening in a large study of primary care practices by analyzing data on both cholesterol level and familial hypercholesterolemia mutation,” David S. Wald, FRCP, Wolfson Institute of Preventive Medicine, Queen Mary University of London, and colleagues wrote.

Researchers acquired blood samples from 10,095 children aged 1 to 2 years during their regular immunization visits to measure cholesterol levels and test for mutations related to familial hypercholesterolemia. A child with elevated cholesterol levels who had either a familial hypercholesterolemia mutation or a second elevated cholesterol level 3 months later was considered positive for familial hypercholesterolemia. A parent whose child tested positive was also deemed positive if he or she had the same mutation or had the higher cholesterol level of the two parents.

Researchers screened the children for hypercholesterolemia using a cutoff of 1.53 multiples on the median (MoM). They found that 92 met the cutoff for hypercholesterolemia. Of those, 28 were determined to have familial hypercholesterolemia: 13 had a mutation found on the FH48 panel, seven had a mutation identified via DNA sequencing, and eight had a repeat cholesterol screening of 1.53 MoM or higher.

In addition, among the 10,003 children who did not meet the initial cutoff for hypercholesterolemia, 17 had a mutation on the FH48 panel.

Wald and colleagues then used different criteria to identify familial hypercholesterolemia: a cholesterol cutoff amount as 1.35 MoM, plus a mutation, or two cholesterol levels of at least 1.50 MoM. Using these criteria, they identified 40 children — 32 with a mutation and eight without — and 40 parents with familial hypercholesterolemia.

“The results suggest that familial hypercholesterolemia is better regarded as a marker that indicates an increased risk of premature cardiovascular disease rather than as a separate medical disorder,” Wald and colleagues wrote. “Regardless of which conceptual view is adopted, the conclusion remains that child–parent familial hypercholesterolemia screening is a simple, practical, and effective way of screening the population to identify and prevent a relatively common inherited cause of premature cardiovascular disease.”– by Janel Miller

Disclosure: Wald reports receiving grant support from the Medical Research Council during the conduct of the study, and other support from Polypill Ltd. outside the submitted work. Please see the study for a full list of all other authors’ relevant disclosures.