Pediatric Cholesterol Screening

Children with Familial Hypercholesterolemia Are Diagnosed Late and Under-treated in the United States

We are excited to announce new data from the Family Heart Foundation’s CASCADE FH® Registry was published in the The Journal of Pediatrics. This research helps us understand the progress that has been made in the treatment and care of children with familial hypercholesterolemia (FH) in specialty care, and the work that needs to be done to underscore the importance of cholesterol testing in youth. These data highlight that early initiation of statins makes a difference in a child/adolescent’s ability to reach LDL-cholesterol guidelines.

Press release
Children born with a common genetic condition, familial hypercholesterolemia (FH), are at increased risk for atherosclerotic cardiovascular disease (ASCVD) early in life. Despite long-standing national guidelines, cholesterol screening — for children at age 2 for those with a family history of heart disease and between the ages of 9 to 11 for all children — is not being implemented .


New data from the Family Heart Foundation’s CASCADE FH Registry highlights the gaps in care for children with FH, published online today in The Journal of Pediatrics. Among nearly 500 children and adolescents with FH, diagnosis occurred on average at nine years of age, seven years later than cholesterol screening guidelines.
Pediatric Cholesterol Testing - Infographic
“It is critical to identify children with familial hypercholesterolemia in order to prevent cardiovascular disease through early treatment intervention,” said Sarah de Ferranti, MD, MPH, Chief, Division of Ambulatory Cardiology, Boston Children’s Hospital, and CASCADE FH Registry principal investigator. “The U.S. guidelines are clear but there is a low level of implementing these guidelines that put nearly 300,000 children at risk.”


FH causes a high level of low-density lipoprotein cholesterol (LDL-C) from birth, that left untreated can cause early ASCVD including heart attacks and strokes. Treatment can begin as early as eight years old and is recommended to start no later than 10 years of age. One recent long-term study published in the New England Journal of Medicine demonstrated that initiating statins in childhood and continuing statins into adulthood led to a reduction of cardiovascular events as compared to their parents with the same genetic disorder.


Youth in the registry began lipid-lowering therapy on average at 11 years of age, with statins the most frequently reported medication (n=271; 56.2%). In addition, 23.5% of children eligible for treatment were not receiving therapy at enrollment. Only 39% of the youth achieved recommended LDL-C reduction according to U.S. and international guidelines (LDL-C <130 mg/DL or a 50% reduction from the highest pretreatment LDL-C levels).


“Consequences are devastating when familial hypercholesterolemia is missed, with one in ten heart attacks under 45 caused by FH. Yet evidence shows that we can dramatically change this paradigm with early identification and treatment,” said Katherine Wilemon, Founder and CEO of the Family Heart Foundation. “We will continue to advocate for increased research and awareness of FH as a common cause of premature heart disease in all members of affected families.”

Download the paper through this link.

About the CASCADE FH® Registry
The CAscade SCreening for Awareness and Detection of Familial Hypercholesterolemia (CASCADE FH) Registry is a national multi-institution observational study that includes the largest cohort of individuals with FH in the United States. FH is a common genetic condition that causes very high cholesterol and can lead to early heart disease if untreated. Only 15 percent of individuals with FH are diagnosed in the United States today. the Family Heart Foundation established and maintains the Registry to increase FH awareness, analyze diagnosis and treatment rates, and monitor clinical outcomes.


About the Family Heart Foundation
the Family Heart Foundation is a leading research and advocacy non-profit organization focused on reducing heart disease by driving scientific understanding and evidence-based care of familial hypercholesterolemia. Our mission is to save lives by contributing to scientific research that leads to greater understanding and improved diagnosis and treatment of FH worldwide.

2 Responses to “Children with Familial Hypercholesterolemia Are Diagnosed Late and Under-treated in the United States”

  1. Jeanine Amilowski

    Is there a blood test that confirms you have FH?


Leave a Reply