Family Heart Foundation Unveils National Strategy to Close Critical Gaps in Universal Pediatric Lipid Screening for Familial Hypercholesterolemia
In a landmark effort to combat a widespread yet dangerously underdiagnosed genetic disorder, the Family Heart Foundation (FHF)—a leading research and advocacy organization dedicated to preventing early heart disease—has announced the publication of a comprehensive set of evidence-based recommendations in the Journal of Pediatrics. The manuscript, titled “Accelerating Guideline-Recommended Universal Pediatric Lipid Screening: Launch of the LEAD Pediatric Initiative,” outlines a bold, multi-stakeholder roadmap to dramatically improve the identification of children with familial hypercholesterolemia (FH), a life-threatening inherited condition that causes extremely high levels of low-density lipoprotein (LDL) cholesterol from birth and can lead to heart attacks and cardiovascular disease as early as a person’s 20s or 30s.
Despite clear national guidelines issued in 2011 by the National Heart, Lung, and Blood Institute (NHLBI) and the American Academy of Pediatrics (AAP) recommending universal lipid screening for all children between the ages of 9 and 11, implementation remains alarmingly low. Recent data published in the Journal of the American Medical Association (JAMA) and Pediatrics reveals that only 11% of U.S. youth aged 9 to 21 have undergone documented lipid screening. Even more concerning, studies suggest that 30% to 60% of children with dyslipidemia—including those with FH—are missed when relying solely on targeted screening (which only tests children with known family history or risk factors), compared to universal screening that tests all children regardless of background.
This gap represents a profound public health failure. FH affects an estimated 1 in 250 people worldwide, making it one of the most common inherited conditions—but over 90% of affected individuals in the U.S. remain undiagnosed. Without early detection and treatment, individuals with FH face a 20-fold increased risk of premature coronary artery disease. Yet, with timely diagnosis and appropriate therapy—often beginning in childhood—lifespan and quality of life can be normalized.
To address this crisis, the Family Heart Foundation launched the Leveraging Evidence and Data (LEAD) for Pediatric Cholesterol Screening Initiative in 2023. The LEAD initiative brought together a multidisciplinary working group of national experts, including pediatricians, cardiologists, primary care providers, public health officials, health system leaders, and—critically—patients and families living with FH. Through surveys, focus groups, and data analysis, the group identified key “friction points” that hinder universal screening, including lack of clinician awareness, inconsistent electronic health record (EHR) prompts, parental misconceptions, reimbursement challenges, and fragmented care pathways.
The resulting recommendations, now published in the Journal of Pediatrics, offer concrete, actionable strategies tailored to three core stakeholder groups:
- For Clinicians: Enhance education on the purpose and urgency of pediatric lipid screening, emphasizing that it was primarily designed to detect FH—not just general cholesterol issues. Integrate automated EHR alerts for children aged 9–11 to prompt ordering of a simple, non-fasting lipid panel. Provide clear clinical decision support for interpreting results and initiating referrals.
- For Healthcare Systems: Standardize screening protocols across pediatric and family medicine practices. Embed lipid screening into well-child visit workflows and quality metrics. Ensure seamless referral pathways to lipid specialists or cardiologists when elevated LDL is detected.
- For Families and Communities: Launch public awareness campaigns to demystify cholesterol testing in children and highlight FH as a treatable genetic condition, not a lifestyle issue. Empower parents with tools to advocate for screening, especially in families with a history of early heart disease.
“Every child in America between the ages of 9 and 11 should get a simple blood test to screen their LDL cholesterol for a serious genetic condition called familial hypercholesterolemia,” said Katherine Wilemon, founder and CEO of the Family Heart Foundation, who herself lives with FH. “Many times, families do not understand that the cardiovascular disease that runs through their family for generations can be managed with early diagnosis. The publication in the Journal of Pediatrics lays out concrete actions that can be taken—and on which we have already formed partnerships to support families and improve care for children.”
Dr. Laurence S. Sperling, 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, underscored the global significance of this effort. “Many clinicians do not understand that the pediatric lipid screening guidelines were primarily developed to identify FH—a genetic condition designated by the World Health Organization in 1998 as a public health concern,” he explained. “Early and aggressive cardiovascular disease can be prevented with an FH diagnosis in a child, leading to immediate and appropriate treatment. 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.”
The timing of the publication is strategic. It was simultaneously highlighted at the Family Heart Foundation’s Global Summit in Atlanta, where medical experts, policymakers, payers, and industry leaders from around the world convened to discuss scalable solutions for inherited cardiovascular risk. The summit served as a launchpad for implementing the LEAD recommendations through new collaborations with health systems, EHR vendors, advocacy groups, and public health agencies.
Critically, the initiative reframes pediatric lipid screening not as a bureaucratic checkbox, but as a lifesaving public health intervention. A single, low-cost blood test can identify a child with FH, enabling early statin therapy, lifestyle support, and cascade screening of relatives—potentially preventing heart attacks across an entire family lineage.
The Family Heart Foundation’s work builds on decades of advocacy but marks a shift from awareness to actionable systems change. By centering the voices of patients and families while aligning clinical, operational, and policy levers, the LEAD initiative offers a replicable model for closing the diagnosis gap in FH—and potentially other underdetected genetic conditions.
As Wilemon aptly stated, “This isn’t just about cholesterol. It’s about giving every child a fair chance at a long, healthy life—free from the shadow of preventable heart disease.” With the publication of these recommendations, the path forward is clear: universal screening must move from guideline to standard of care. And with the LEAD initiative lighting the way, that future is within reach.
