Recommendations for the management of patients with familial hypercholesterolemia

Familial hypercholesterolemia (FH), characterized by congenitally elevated low-density lipoprotein cholesterol levels, is estimated to affect 20 million people worldwide. In patients with heterozygous FH, coronary artery disease manifests in about half of men by age 50 and one third of women by age 60, while homozygous FH patients often suffer coronary events in the first or second decade of life. Early diagnosis and aggressive treatment are paramount. However, many FH patients remain undiagnosed and/or inadequately treated. There is a considerable need for more effective screening and diagnosis of FH in the United States. Our objective herein is to provide concise overviews of how to screen for and diagnose FH and summarize international consensus recommendations for managing adults and children with available treatments.