Familial Hypercholesterolemia
There Is a Need for Early Detection and Treatment
Since this article does not have an abstract, we have provided the first 150 words of the full text.
Excerpt
Familial hypercholesterolemia (FH) is a metabolic disorder that causes premature artherosclerosis.1 It is transmitted as an autosomal dominant trait, and both heterozygous and homozygous forms of the disease are recognized. The gene frequency for heterozygous FH in the general population is estimated to be one in 500, making it one of the most common simply inherited disorders in man. The hypercholesterolemia results from the excess accumulation of low-density lipoprotein (LDL) in the plasma. The sustained elevation of the LDL-cholesterol level then promotes the development of premature atherosclerosis and xanthoma formation in the tendons and skin. Heterozygotes have LDL-cholesterol levels twofold to threefold above normal and begin experiencing myocardial infarctions in the fourth decade of life. Homozygotes are much more severely affected, having LDL-cholesterol levels sixfold to eightfold above normal and experiencing myocardial infarctions in the first or second decades of life.
The pathophysiology of FH is now well understood,
