New recommendations aim to identify children with familial hypercholesterolemia

The Family Heart Foundation, a leading research and advocacy organization, announced the online publication of recommendations from a multidisciplinary panel in the Journal of Pediatrics to promote the early identification of children living with familial hypercholesterolemia (FH). A common life-threatening genetic condition that causes high cholesterol from birth, FH can lead to premature heart attacks and heart disease, if it is not diagnosed until adulthood. Despite national guidelines established in 2011 by the National Heart, Lung and Blood Institute (NHLBI) and the American Academy of Pediatrics (AAP), the prevalence of pediatric universal lipid screening remains low, leaving the majority of affected children in the United States at high risk of heart disease decades earlier than those who have not inherited the condition.

The manuscript, titled "Accelerating Guideline Recommended Universal Pediatric Lipid Screening: Launch of the LEAD Pediatric Initiative," highlights strategies that could lead to improved universal guideline-recommended screening implementation. The Family Heart Foundation established the Leveraging Evidence and Data (LEAD) for Pediatric Cholesterol Screening Initiative last year to address current challenges that serve as friction points in providing life-saving screening. The Family Heart Foundation engaged national experts and leveraged feedback from the FH population in the U.S. to identify barriers and develop evidence-based recommendations to improve universal lipid screening outcomes from the perspectives of patients/families, clinicians, and healthcare systems.

"Every child in America between the ages of 9 and 11 years of age should get a simple blood test to screen their LDL cholesterol for a serious genetic condition called familial hypercholesterolemia," said Katherine Wilemon, founder and chief executive officer of the Family Heart Foundation. "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 formed partnerships to support families and improve care for children."

Data published in the Journal of the American Medical Association and in Pediatrics, indicates that only 11% of youth in the U.S. between the ages of 9 and 21 had documented lipid screening, and 30 to 60% of youth with dyslipidemia may be missed by targeted screening alone compared to universal lipid screening.

"Many clinicians do not understand the reason for pediatric lipid screening guidelines that were primarily developed to identify FH, a genetic condition designated by the World Health Organization in 1998 as a public health concern," said Laurence S. Sperling, MD, FACC, FACP, FAHA, MASPC, 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. "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 tools created by a working group representing patient, families, clinicians, and health systems as part of the Family Heart Foundation's LEAD initiative and outlined in the Journal of Pediatrics will increase understanding among clinicians and parents about the importance of universal screening."

The journal publication was simultaneously highlighted at the annual Family Heart Foundation Global Summit in Atlanta, in which the findings were shared with medical experts, policy makers, and industry leaders from around the world.