Familial Hypercholesterolemia (One Form of Familial Type II Hyperlipoproteinemia) A STUDY OF ITS BIOCHEMICAL, GENETIC, AND CLINICAL PRESENTATION IN CHILDHOOD

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Abstract

Primary hyperbetalipoproteinemia (type II hyperlipoproteinemia) is a common disorder associated with premature vascular disease. It is frequently due to genetic abnormalities, some of which are expressed in childhood. We have examined the manner in which that form of hyperbetalipoproteinemia known as familial hypercholesterolemia may be expressed in 236 children aged 1-19 born of 90 matings in which one parent had hyperbetalipoproteinemia of this variety and one parent did not.

Authors

Peter O. Kwiterovich Jr., Donald S. Fredrickson, Robert I. Levy