Recommendations Released for Familial Hypercholesterolemia

Familial hypercholesterolemia (FH), a group of genetic defects that cause elevations in cholesterol levels, is associated with preventable, premature cardiovascular disease (CVD), and can be broken down into heterozygous and homozygous forms (Table 1). Early and accurate diagnosis and treatment are crucial in avoiding cardiovascular events and death. “FH is very treatable,” says Anne C. Goldberg, MD, FNLA, FACP, FAHA, “and is one of the more common genetic disorders in which treatment can decrease the risk of early cardiovascular disease.” The National Lipid Association (NLA) released clinical practice recommendations on the screening, diagnosis, and management of patients with FH, focusing heavily on early recognition and treatment. The recommendations were published in the June 2011 Journal of Clinical Lipidology. “Most clinical guidelines for cholesterol treatment have discussed the importance of cholesterol levels and cholesterol as a risk factor for CVD but don’t really address FH in any great detail,” explains Dr. Goldberg, who was the chair of the writing group that developed the recommendations. “As such, the NLA recommendations may contribute by helping physicians to recognize FH in particular and then manage these patients appropriately based on the available scientific evidence.” Be Suspicious of FH Among Children Among the key recommendations made by the NLA is for universal cholesterol screening for elevated serum cholesterol. All children aged 9 to 11 should be screened. Healthcare providers should suspect FH among children and adolescents under the age of 20 with LDL cholesterol of 160 mg/dL or higher or non-HDL cholesterol of 190 mg/dL or higher and in anyone aged 20 or older who has LDL cholesterol levels of 190 mg/ dL or higher...