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January 13, 1999

When Should Patients With Heterozygous Familial Hypercholesterolemia Be Treated?

Author Affiliations

Author Affiliations: Division of Heart and Vascular Diseases, National Heart, Lung, and Blood Institute, Bethesda, Md.

JAMA. 1999;281(2):180-181. doi:10.1001/jama.281.2.180

Familial hypercholesterolemia (FH) is one of the more common genetic diseases, affecting about 1 in 500 persons in its heterozygous form (HeFH) and about 1 per 1 million persons in its most severe homozygous form.1 This disease, in which high levels of low-density lipoprotein cholesterol (LDL-C) are associated with early and often severe manifestations of coronary heart disease (CHD), even in the absence of other risk factors, has served as a paradigm for the atherogenicity of elevated LDL-C levels. The study of this disorder has provided one of the scientific foundations for the National Cholesterol Education Program (NCEP)2,3 approach that makes LDL-C the primary target of cholesterol-lowering treatment for the prevention of CHD. It is therefore ironic that HeFH, the most common form of the disease, is often neglected or undertreated in adults and children. This is particularly disappointing because screening for this disorder by cholesterol measurement is simple and inexpensive, and its diagnosis and management are well within the compass of most physicians.

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