Screening Could Help Identify Familial Hypercholesterolemia

WEDNESDAY, May 18, 2022 (HealthDay News) — Screening for familial hypercholesterolemia (FH) by combining clinical criteria with genetic testing could increase the yield of FH screening programs, according to a study published online May 18 in the Journal of the American Heart Association.

Brandon K. Bellows, Pharm.D., from Columbia University in New York City, and colleagues developed a regression model to predict the probability of having any FH variants using clinical characteristics and the FH variant status of 49,738 U.K. Biobank participants. To estimate the yield of FH screening programs using Dutch Lipid Clinic Network clinical criteria alone (excluding genetic variant status), genetic testing alone, or combining clinical criteria with genetic testing, the regression model and modified Dutch Lipid Clinic Network criteria were applied to 39,790 adults in the National Health and Nutrition Examination Survey.

The researchers found that the regression model accurately predicted FH variant status in U.K. Biobank participants, with an area under the receiver operating characteristic curve of 0.88. The estimated yield per 1,000 individuals screened in the National Health and Nutrition Examination Survey was 3.7, 3.8, and 6.6 cases with the Dutch Lipid Network clinical criteria alone, genetic testing alone, and combining clinical criteria with genetic testing. Using clinical criteria alone was estimated to yield 1.3 cases per 1,000 individuals screened among young adults aged 20 to 39 years; when combined with genetic testing, this yield was expected to increase to 4.2 FH cases.

“If a young adult is identified to have familial hypercholesterolemia, they would likely benefit from earlier and more aggressive treatment to prevent heart attack and stroke,” Bellows said in a statement.

Several authors disclosed financial ties to the pharmaceutical industry.

Abstract/Full Text