Understanding Familial Hypercholesterolemia in Children

Jonathan N. Flyer, M.D.

Credit: University of Vermont Health

Familial hypercholesterolemia (FH) is a serious and often overlooked genetic condition that can cause dangerously high cholesterol from a very young age — but early detection can save lives. We spoke with Jonathan N. Flyer, M.D., associate professor of pediatrics at the University of Vermont (UVM) and division chief of pediatric cardiology at the UVM Health Network, to help families understand why screening children for cholesterol is so important. Flyer explains what makes FH different from the high cholesterol adults develop later in life, why early testing is key, and how new national recommendations are aiming to prevent early heart disease in children and young adults.

What exactly is FH, and how does it differ from high cholesterol that develops later in life?

Jonathan N. Flyer, M.D.: FH is a common life-threatening genetic condition that causes high cholesterol, affecting one in 250 people. If left untreated, FH leads to early heart attacks and heart disease. People with FH have an elevated level of low-density lipoprotein (LDL), commonly called the “bad cholesterol.” This happens because a genetic mutation is present at birth that affects the way cholesterol is cleared by the body. As a result, cholesterol builds up in the bloodstream and the walls of the arteries. Cholesterol buildup in the artery wall is called plaque, hardening of the arteries or atherosclerosis. This process narrows the path of blood vessels, which can limit blood flow to the heart and brain, and leads to problems like heart attacks and strokes in young adults and even children.

Why is it so important to screen children for FH at an early age?

JF: Like many other genetic conditions, FH is inherited. If you have FH, every child you have has a 50% chance of inheriting FH. That’s why family screening is so important. When one person in the family is diagnosed, it’s crucial for parents, siblings and children to get their cholesterol checked to check for FH.

What are the current guidelines for lipid screening in kids, and how do the new recommendations aim to improve diagnosis?

JF: In 2011, the National Heart, Lung and Blood Institute recommended universal cholesterol screening for all children between the ages of 9 and 11, with repeat screening from ages 17 to 21. For children with a family history of early heart attack, stroke or FH, it’s recommended they are tested at age 2. The American Academy of Pediatrics fully endorses this pediatric screening guidance. Even with these clear recommendations, data show only 2% to 22% of children are having lipid screens between the ages of 9 and 11.

Many parents may hesitate to test their kids for cholesterol — what would you say to reassure them?

JF: We know that children with FH, who have very high LDL cholesterol, can build up cholesterol in their arteries in childhood. This is a genetic cause of early atherosclerosis and is treatable. If a high LDL is found early in life, starting early treatment gives your child the best chance of preventing early heart attack, stroke or death. Checking LDL cholesterol (or LDL-C) levels is the earliest and best way to check your child’s risk for early heart disease.

If a child is diagnosed with FH, what treatment options are available, and how effective are they in preventing future heart disease?

JF: The good news is, if caught early, high LDL can be treated to prevent early heart disease. The important step is to get the FH diagnosis early and begin treatment when age appropriate, typically between 8 and 10 years old. Research shows that if you lower your LDL in childhood with the proper therapy, you can significantly decrease the risk of heart attack, stroke or sudden cardiac arrest.

Is there anything else you’d like our audience to know?

JF: To address the urgent need to implement universal cholesterol screening in all children in the U.S., the Family Heart Foundation launched the Leveraging Evidence and Data (LEAD) for Pediatric Cholesterol Screening Program. The program uses Family Heart Foundation’s expertise, research, relationships with experts in the field and community partnerships to raise awareness and save lives by ensuring all children have universal cholesterol screens between the ages of 9 and 11, a repeat screening between 17 and 21, and at age 2 if there is a family history of early heart disease. The Family Heart Foundation can help you navigate a family’s journey with FH. Experts at the Family Heart Care Navigation Center are ready to answer all questions.