New Guidelines Encourage Familial Hypercholesterolemia Screening in Adolescents

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On September 24, 2025, the Family Heart Foundation announced the publication of recommendations from a multidisciplinary panel to promote early identification of children with familial hypercholesterolemia (FH).1

Although guidelines were published back in 2011 by the National Heart, Lung, and Blood Institute and the American Academy of Pediatrics, pediatric universal lipid screening (ULS) is still low, leaving many people with FH undiagnosed. Only 11% of US children between 9 and 21 have had documented lipid screening, and 30-60% with dyslipidemia may be missed by targeted screening versus ULS.1

“Many times, families do not understand that the cardiovascular disease that runs through their family for generations can be managed with early diagnosis,” Katherine Wilemon, founder and chief executive officer of the Family Heart Foundation, said in a statement. “The publication in the Journal of Pediatrics lays out concrete actions that can be taken, and on which we have formed partnerships to support families and improve care for children.”1

These guidelines were born out of the Family Heart Foundation’s Leveraging Evidence and Data (LEAD) for Pediatric Cholesterol Screening Initiative, launched in 2024 to investigate barriers to and friction points in providing screening to patients.1

The launch of LEAD came partially in response to a study conducted in 2024 examining the prevalence of lipid screening and elevated lipid measurements among adolescents in the US. The cross-sectional study included data from 3,226,002 children and young adults aged 9-21 years from the IQVIA Ambulatory Electronic Medical Record database.2

Lipid measurements were defined as abnormal if ≥1 of the following test results were identified:

  • Total cholesterol ≥200 mg/dL
  • Low-density lipoprotein (LDL) cholesterol ≥130 mg/dL
  • Very low-density lipoprotein cholesterol ≥31 mg/dL
  • Non-high-density lipoprotein cholesterol ≥145 mg/dL
  • Triglycerides ≥100 mg/dL for children aged 9 years or ≥130 mg/dL for patients between 10 and 21 years.2

Among the included patients, of whom 23.9% were aged 9-11 years, 34.8% were aged 12-16 years, and 41.3% were aged 17-21 years, 11.3% had ≥1 documented lipid screening test. Lipid screening frequency increased by age group (9-11 years, 9%; 12-16 years, 11.1%; 17-21 years, 12.9%) and body mass index category (range, 9.2% [healthy weight] to 21.9% [severe obesity]).2

Among the screened patients, 30.2% had abnormal lipid levels. The prevalence of abnormal results was higher among those with overweight (aPR, 1.58; 95% CI, 1.56-1.61), moderate obesity (aPR, 2.16; 95% CI, 2.14-2.19), and severe obesity (aPR, 2.53; 95% CI, 2.5-2.57).2

Despite this, investigators found that fewer than 1 in 5 patients with obesity received screening. Those with obesity or overweight were also 1.5-2.5 times more likely to have abnormal results during screening. These findings were consistent with previous studies.2

“Early and aggressive cardiovascular disease can be prevented with an FH diagnosis in a child, leading to immediate and appropriate treatment,” Laurence Sperling, MD, FACC, chief medical officer of the Family Heart Foundation, Katz professor in preventive cardiology at Emory University School of Medicine, and professor of global health at Rollins School of Public Health said in a statement. “The goal of LEAD is to significantly impact missed opportunities to save hundreds of thousands of young lives from being cut short or burdened by early cardiovascular disease.”1

References
  1. Babros J. Family Heart Foundation Announces Recommendations to Improve Universal Screening for Underdiagnosed Genetic Condition in Children, Which Causes Early Onset Cardiovascular Disease. BusinessWire. September 24, 2025. Accessed September 25, 2025. https://www.businesswire.com/news/home/20250923292492/en/Family-Heart-Foundation-Announces-Recommendations-to-Improve-Universal-Screening-for-Underdiagnosed-Genetic-Condition-in-Children-Which-Causes-Early-Onset-Cardiovascular-Disease
  2. Thompson-Paul AM, Kraus EM, Porter RM, et al. Pediatric Lipid Screening Prevalence Using Nationwide Electronic Medical Records. JAMA Netw Open. 2024;7(7):e2421724. doi:10.1001/jamanetworkopen.2024.21724

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