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.
Knowles JW, Rader DJ, Khoury MJ. Cascade Screening for Familial Hypercholesterolemia and the Use of Genetic Testing. JAMA. 2017;318(4):381–382. doi:10.1001/jama.2017.8543