F. Bruder Stapleton, MD reviewing Wald DS et al. N Engl J Med 2016 Oct 27. McCrindle BW and Gidding SS. N Engl J Med 2016 Oct 27.
Testing for cholesterol levels and DNA mutations during routine pediatric care was feasible and effective in identifying children with familial hypercholesterolemia.
Early detection of familial hypercholesterolemia (FH) in children may provide an opportunity to reduce the development of long-term cardiovascular disease.
To examine the efficacy of child–parent screening for FH, investigators in the United Kingdom prospectively assessed blood total cholesterol, low-density lipoprotein, and triglyceride levels and FH-associated mutations in 10,095 children (aged 1–2 years) during a routine immunization visit. When elevated cholesterol levels were identified, blood studies were repeated 3 months later and patients' parents were also screened.
Ninety-two children had a high cholesterol level, defined as ≥1.53 multiples of the median (MoM) cholesterol level, corresponding to a percentile of 99.2. Of these children, 20 had an FH mutation and 8 others had high cholesterol on repeat testing (28 total positive screens for FH). Genetic mutations associated with FH were also found in 17 children with blood cholesterol <1.53 MoM. Using a blood cholesterol level ≥1.35 MoM (corresponding to the 95th percentile) to define hypercholesterolemia, 12 additional children screened positive for FH.
Parents of the children with FH were screened; a positive screening result was defined as having the same mutation as the child, or if no mutation was found, having the higher cholesterol level of the two parents. Ninety percent of parents who screened positive for FH had a cholesterol level above the 75th percentile, and many were not receiving treatment for their high cholesterol. Screening was well accepted and did not reduce the immunization rate.
CITATION(S):
Wald DS et al. Child–parent familial hypercholesterolemia screening in primary care. N Engl J Med 2016 Oct 27; 375:1628.
McCrindle BW and Gidding SS.What should be the screening strategy for familial hypercholesterolemia? N Engl J Med 2016 Oct 27; 375:1685.
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