Genetic and metabolic factors predicting risk of cardiovascular disease infamilial hypercholesterolemia

Familial hypercholesterolemia is a hereditary metabolic disorder characteri sed by high low-density lipoprotein cholesterol levels and an extreme risk of premature cardiovascular disease. In patients with heterozygous familial hypercholesterolemia a substantial variation is seen in both the severity of the hypercholesterolemia and onset of atherosclerotic disease symptoms. We discuss the contribution of additional atherogenic risk factors of metab olic, environmental and genetic origin. Subclinical disease measurements. s uch as the intima media thickness (IMT), assessed by ultrasonography, may c ontribute to a better risk prediction of future cardiovascular disease in t hese patients. (C) 2001 Elsevier Science B.V. All rights reserved.