Cascade Screening for Familial Hypercholesterolemia and the Use of Genetic Testing.

@article{Knowles2017CascadeSF,
  title={Cascade Screening for Familial Hypercholesterolemia and the Use of Genetic Testing.},
  author={Joshua W. Knowles and Daniel J. Rader and Muin J. Khoury},
  journal={JAMA},
  year={2017},
  volume={318 4},
  pages={381-382}
}
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 2.5to 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… CONTINUE READING