Screening for familial hypercholesterolemia in childhood

M. W. Gillman
Department of Medicine, Boston University School of Medicine, MA 02118.

Widespread blood cholesterol screening in childhood is not an effective strategy for decreasing the burden of coronary heart disease in the US population. Screening to identify older children and adolescents at high risk for developing coronary heart disease in early adulthood makes sense, but only if it is limited to individuals with positive family histories and if the cutoff point for further diagnosis and treatment is set high enough so that the benefits clearly outweigh the risks. These conditions are met for the case of the heterozygous form of familial hypercholesterolemia, which accounts for approximately 5% of cases of premature coronary heart disease. Screening for familial hypercholesterolemia is defensible because of (1) the serious prognosis and relatively high prevalence of familial hypercholesterolemia, (2) the existence of appropriate initial screening and follow-up diagnostic tests, (3) the fact that family history-directed screening is likely to be effective in detecting affected individuals, and (4) the apparent effectiveness of intervention in adolescence for a disease that would otherwise manifest in early adulthood.