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What Should Be the Screening Strategy for Familial Hypercholesterolemia?

Familial hypercholesterolemia, a common genetic disorder that affects approximately 1 in 250 persons, is associated with elevated low-density lipoprotein (LDL) cholesterol levels throughout life.1 When heterozygous familial hypercholesterolemia is not treated, premature atherosclerotic cardiovascular disease occurs in approximately 25% of affected women and in approximately 50% of affected men. Long-term treatment with statins has been associated with a greatly improved prognosis. Nonetheless, the condition is underdiagnosed, particularly among children and adolescents. In the study by Wald et al., reported in this issue of the Journal,2 a total of 10,095 children 1 to 2 years of age who attended routine immunization . . .