Genetic and metabolic factors predicting risk of cardiovascular disease in familial hypercholesterolemia.

Familial hypercholesterolemia is a hereditary metabolic disorder characterised 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 metabolic, environmental and genetic origin. Subclinical disease measurements, such as the intima media thickness (IMT), assessed by ultrasonography, may contribute to a better risk prediction of future cardiovascular disease in these patients.