Cascade Screening for Familial Hypercholesterolemia and the Use of Genetic Testing

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 and accelerated atherosclerotic cardiovascular disease (ASCVD). 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%). 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. Here, Knowles et al discuss the FH cascade screening.