Familial Hypercholesterolemia

Familial hypercholesterolemia (FH) is a family of genetic disorders characterized by impaired hepatic clearance of low-density lipoprotein (LDL) particles, due to pathogenic variants that impair LDL receptor function.1,2 Lifelong elevation of LDL cholesterol (LDL-C) results in accelerated atherosclerosis and increased risk of atherosclerotic cardiovascular disease (ASCVD). Worldwide, heterozygous FH affects approximately 1 in 250 to 350 individuals, based on genetic epidemiology studies of pathogenic variants in FH-associated genes.1-3 Homozygous FH is rare, occurring in approximately 1 in 160 000 to 500 000 individuals.2 Among people with untreated heterozygous FH, approximately half of men develop fatal or nonfatal coronary events by age 50 years and approximately one-third of women by age 60 years.