Familial hypercholesterolemia is an important risk factor for atherosclerotic cardiovascular disease, including myocardial infarction and ischemic stroke. Familial hypercholesterolemia is a common dominant genetic condition resulting in structural, functional, and metabolic abnormalities in the low-density lipoprotein (LDL) receptor. The prevalence of the heterozygous form of familial hypercholesterolemia is reported to be 1:250 individuals, making it one of the more common genetic conditions in the US population.1
Daniels SR. Screening for Familial Hypercholesterolemia. JAMA Cardiol. Published online May 22, 20194(7):689–690. doi:10.1001/jamacardio.2019.1509
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