Familial hypercholesterolemia (FH) (OMIM #143890) is an autosomal dominant disorder present in 1:500 Caucasians. FH is caused by defective low-density lipoprotein (LDL) receptors, leading to a diminished uptake of LDL cholesterol by the liver. As a result, FH patients have high LDL cholesterol levels and a high risk of contracting cardiovascular disease (CVD), mainly coronary heart disease (CHD). FH can be diagnosed on the basis of clinical criteria (Table 1) or by detection of the causal mutation in the LDL-receptor gene. Despite the homogenous background of hypercholesterolemia, the onset and severity of CHD among FH patients varies considerably. This introduction provides a short update of the classic and genetic factors influencing CHD risk in heterozygous FH patients. Besides the importance of CHD risk prediction for FH patients, FH being the most common monogenetic disorder, FH can also be considered a high-risk model population in which CHD risk factors can more easily be detected. Risk factors identified in FH patients might consequently be translated to the general population.

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E.J.G. Sijbrands (Eric)
Erasmus University Rotterdam
Erasmus MC: University Medical Center Rotterdam

Versmissen, J. (2012, September 19). Coronary Heart Disease in Familial Hypercholesterolemia. Retrieved from http://hdl.handle.net/1765/37245