Preventing early cardiovascular death in patients with familial hypercholesterolemia

Abstract

Familial hypercholesterolemia (FH) is an autosomal dominant disorder resulting in severe elevation of total and low-density lipoprotein cholesterol levels. There are more than 600,000 individuals in the United States with FH. Individuals with FH tend to experience premature cardiovascular disease and often die from sudden cardiac death at a young age. Statins alone or in combination with other lipid-lowering medications are effective in managing FH and preventing cardiovascular events. For patients who do not respond to or are intolerant of pharmacotherapy, low-density lipoprotein apheresis is available as a nonpharmacologic treatment option. Despite the prevalence of FH, it is undiagnosed and untreated in the majority of patients. Screening, combined with appropriate drug therapy, can save lives. The authors review the screening, diagnosis, and management of FH.