Familial Hypercholesterolemia (FH) Screen

CPT: 82465; 83718; 83721
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Test Details

Synonyms

  • FH Screen
  • LDL and Non-HDLC FH Screen

Test Includes

Cholesterol, total; high-density lipoprotein (HDL) cholesterol; non-HDL cholesterol (calculation); LDL cholesterol direct

Use

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.

Methodology

See individual tests.

Reference Interval

See table.

Interpretation

Age

(y)

LDL-C

(mg/dL)

Non-HDL-C

(mg/dL)

FH should be suspected if at age:

>19

>189

>219

<20

>159

>189

FH should be strongly suspected (with approximate probability of 80%) if at age:

>29

>249

NA

20−29

>219

NA

<20

>189

NA

Specimen Requirements

Specimen

Serum

Volume

2 mL

Minimum Volume

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

Container

Red-top tube or gel-barrier tube

Patient Preparation

Patient should be on a stable diet, ideally for two to three weeks prior to collection of blood, and should fast for 12 to 14 hours prior to the blood draw.

Collection

Separate serum from cells within 45 minutes of venipuncture. Lipid profiles are best avoided following acute myocardial infarction, for up to three months, although cholesterol can be in the first 24 hours.

Storage Instructions

Maintain specimen at room temperature.

Causes for Rejection

Improperly labeled specimen

Clinical Information

Footnotes

1. Goldberg AC, Hopkins PN, Toth PP, et al. Familial hypercholesterolemia: screening, diagnosis, and management of pediatric and adult patients clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. J Clin Lipidol. 2011; 5(3):133-140.21600517

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
368600 Familial Hypercholesterolemia 001065 Cholesterol, Total mg/dL 2093-3
368600 Familial Hypercholesterolemia 011817 HDL Cholesterol mg/dL 2085-9
368600 Familial Hypercholesterolemia 011976 Non-HDL Cholesterol mg/dL 43396-1
368600 Familial Hypercholesterolemia 120297 LDL Chol. (Direct) mg/dL 18262-6
368600 Familial Hypercholesterolemia 011824 Comment: N/A

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