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.
Rifkind BM, Schucker B, Gordon DJ. When Should Patients With Heterozygous Familial Hypercholesterolemia Be Treated?. JAMA. 1999;281(2):180–181. doi:10.1001/jama.281.2.180
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