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Invited Commentary
May 22, 2019

Screening for Familial Hypercholesterolemia

Author Affiliations
  • 1Department of Pediatrics, University of Colorado School of Medicine, Aurora
  • 2Children’s Hospital Colorado, Aurora
JAMA Cardiol. 2019;4(7):689-690. doi:10.1001/jamacardio.2019.1509

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

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