Family Heart Foundation Public Comment for Screening for Lipid Disorders in Children and Adolescents

On January 24, 2023, the US Preventive Services Task Force (USPSTF) released their draft recommendation based on evidence of the benefits and harms of screening for lipid disorders, including familial hypercholesterolemia (FH), in children and adolescents aged 20 or younger. This is an update to their 2016 recommendation. In it, they said there was insufficient evidence to recommend screening for lipid disorders in children and adolescents 20 years or younger. The 2023 draft recommendation is the same. The Family Heart Foundation has submitted public comments, signed by medical professionals, organizations, and individuals affected by FH and homozygous FH (HoFH) that strongly disagreeing with this conclusion and asking the USPSTF to reconsider.

Research from the Family Heart Foundation, in partnership with our CASCADE FH® Registry Network, shows the benefits of early diagnosis and treatment of FH and HoFH, the rare and most severe form of FH. Universal lipid screening is key for early diagnosis of FH and HoFH. Our research also shows the consequences when our health system fails to implement preventive services early in life. As Rare Disease Day approaches, we urge the USPSTF to change its decision to consider HoFH “out of scope” for this evidence review.

The USPSTF is an independent panel of primary health care professionals that reviews the effectiveness of preventive services such as screenings and preventive medicines. They provide recommendations based on those reviews. It’s funded, staffed, and appointed by the U.S Department of Health and Human Services. The recommendations made by this group are frequently used by primary care physicians in the US.

For more than a decade, the American Academy of Pediatrics and the National Heart Lung and Blood Institute of the NIH have recommended screening:

All children between the ages of 9 and 11
Again between 17 and 21
At age 2 when there is a family history of early heart disease or FH.
Like the 2016 recommendation, this USPSTF draft recommendation is likely to lead to more of the status quo where few children undergo cholesterol screening, and their FH and HoFH diagnosis comes too late.

We are hopeful the USPSTF will revise their 2016 conclusion and recommend screening for lipid disorders in children and adolescents. We thank our research partners, those enrolled in the Family Heart Foundation CASCADE FH Registry research study, and all that signed on to the Family Heart Foundation’s public comments.