Familial Hypercholesterolemia (FH) Screen

Serum

2 mL

1 mL (Note: This volume does not allow for repeat testing.)

Red-top tube or gel-barrier tube

Patient should be on a stable diet, ideally for two to three weeks prior to collection of blood. Fasting is not necessary for this profile, however fasting for 12 to 14 hours prior to collection of the specimen is recommended where the triglyceride value provides a priori diagnostic information such as screening for familial hypercholesterolemia or early onset heart disease, pancreatitis, or confirming hypertriglyceridemia.

The 2011 clinical guidance from the National Lipid Association Expert Panel¹ recommends universal screening of children age 9 to 11 years and adults with a fasting lipid profile that include LDL cholesterol and/or non-HDL cholesterol for identification of patients at risk of familial hypercholesterolemia (FH). Cholesterol screening should be considered beginning at age two for children with a family history of premature cardiovascular disease or elevated cholesterol. All individuals should be screened by age 20. For all patients with LDL-C and/or non-HDL-C levels listed in the table above, a family history of high cholesterol and heart disease in first-degree relatives should be collected. The likelihood of FH is higher in individuals with a positive family history of hypercholesterolemia or of premature CHD (onset in men before age 55 years and women before age 65 years). Cascade screening of all first-degree relatives for lipid levels is considered the most cost-effective lifesaving procedure. Genetic screening for FH-associated mutations in LDL receptor, Apo B, and proprotein convertase subtilisin/kexin type 9 (PCSK9) genes may be useful when the diagnosis is uncertain. The prevalence of FH in general population is reported to be 1 in 300 to 500 making FH among one of the most common serious genetic disorders. Some populations, such as French Canadian and Dutch Afrikaner, have a prevalence as high as 1 in 100.

See individual tests.

See table.