Author Affiliation: The Stephen and Suzanne Weiss Dean, Weill Medical College of Cornell University, New York, NY.
Familial hypercholesterolemia is the genetic model for the role of hypercholesterolemia
in the pathology of coronary heart disease (CHD), with a frequency of heterozygous
familial hypercholesterolemia of 1 in 500.1 Most
heterozygous familial hypercholesterolemia patients have low-density lipoprotein
cholesterol (LDL-C) values that are greater than 190 mg/dL (4.91 mmol/L),
and premature heart disease is a usual occurrence.2 Therefore,
physicians may classify familial hypercholesterolemia patients as being at
high coronary risk and may begin preventive efforts as early as childhood,
with lifestyle therapy as the foundation of any regimen. A healthful diet,
antismoking, and exercise are important messages for all children3; however, because of their genetic predisposition
for elevated LDL-C, young persons with familial hypercholesterolemia may require
a degree of cholesterol modification that lifestyle measures alone generally
cannot provide. In such cases, a more aggressive approach is justified, but
the options are limited. The extracorporeal procedure of LDL apheresis is
reserved generally for patients with familial hypercholesterolemia and extreme
elevation of LDL-C that is unresponsive to drug therapy.4 Thus,
pharmacologic intervention likely will be needed in the majority of children
with familial hypercholesterolemia.
Gotto, Jr AM. Targeting High-Risk Young Patients for Statin Therapy. JAMA. 2004;292(3):377–378. doi:10.1001/jama.292.3.377
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