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JAMA Insights
Genomics and Precision Health
July 25, 2017

Cascade Screening for Familial Hypercholesterolemia and the Use of Genetic Testing

Author Affiliations
  • 1Division of Cardiovascular Medicine and Cardiovascular Institute, Stanford University, Stanford, California
  • 2The FH Foundation, Pasadena, California
  • 3University of Pennsylvania, Philadelphia
  • 4Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, Georgia
JAMA. 2017;318(4):381-382. doi:10.1001/jama.2017.8543

Familial hypercholesterolemia (FH) is a dominantly inherited genetic disorder affecting approximately 1 in 250 individuals. It is characterized by markedly elevated low-density lipoprotein cholesterol (LDL-C) and accelerated atherosclerotic cardiovascular disease (ASCVD).1 Persons with FH have a 2.5- to 10-fold increased risk of ASCVD compared with controls, but when FH is diagnosed and treated early in life, the risk is greatly reduced (≈ 80%).1 However, most people with FH have never been diagnosed or treated. Active case finding of FH plus family-based cascade screening can help identify individuals with FH and ensure treatment before ASCVD onset.