Many parents associate high cholesterol with adulthood, but did you know that approximately 1 in 250 children may have elevated cholesterol levels due to genetics rather than diet or lifestyle?

This condition, known as familial hypercholesterolemia (FH), is an inherited disorder that can put even the healthiest and most active children at risk for early heart disease. At the Children’s Clinic in Jackson, TN, we want to help families recognize and manage this condition early to reduce potential health risks.

How Cholesterol Affects Your Child’s Health

Cholesterol is a fat-like substance that our bodies naturally produce to support cell function, hormone production, and vitamin absorption. While dietary sources like meat, eggs, and dairy can contribute to cholesterol levels, the body typically maintains a balance by removing excess amounts. However, in children with FH, a genetic mutation prevents the body from properly processing cholesterol, leading to a dangerous buildup of LDL ("bad") cholesterol in the arteries from birth. Over time, this buildup can cause blockages, increasing the risk of heart attacks and strokes—even at a young age.

A Hidden Health Risk: What Families Need to Know

Many families are unaware of FH because symptoms aren’t always obvious. In fact, while millions of people live with this genetic condition, only about 30% are diagnosed. There are two main forms of FH:

Heterozygous FH (HeFH) – The more common form, occurring when a child inherits one affected gene from a parent. This condition affects about 1 in 250 people.
Homozygous FH (HoFH) – A much rarer and more severe form, occurring when a child inherits two affected genes (one from each parent). HoFH requires immediate medical attention to prevent serious cardiovascular issues early in life.

Why Early Detection is Critical

The good news is that early detection and treatment can significantly reduce the risk of heart disease associated with FH. Research shows that identifying and managing FH early can lower the chances of coronary artery disease by up to 80%.

If there is a history of early heart attacks (before age 55 in men or 65 in women), high cholesterol, or coronary artery disease in close relatives, let your pediatrician know. Family history plays a vital role in determining whether a child should be screened for FH.

When Should Children Be Screened for High Cholesterol?

The American Academy of Pediatrics (AAP) recommends routine cholesterol screening between ages 9 and 11. However, if there’s a family history of FH or early heart disease, screening can begin as early as age 2.

A blood test measuring LDL cholesterol levels can help diagnose FH. Children with LDL levels above 160 mg/dL may have the condition, while those with HoFH often have LDL levels exceeding 400 mg/dL. In extreme cases, levels can reach 1,000 mg/dL.

Signs of High Cholesterol in Children

In some cases, visible signs may indicate extremely high cholesterol levels. Parents should watch for:

Yellowish cholesterol deposits (xanthomas) on the elbows, knees, ankles, buttocks, or fingers.
Fatty deposits (xanthelasmas) near the eyes.

If you notice these symptoms, contact your pediatrician immediately.

Managing FH: A Treatment Plan for Your Child

Advancements in medical research have made managing FH more effective than ever. Depending on the severity of the condition, your child’s doctor may recommend:

Statins – Medications that reduce cholesterol production and help the liver remove excess cholesterol.
Non-statin therapies – Other medications that lower LDL cholesterol by targeting liver and intestinal pathways.
Lipoprotein apheresis – A procedure that removes excess LDL cholesterol from the bloodstream, typically for severe cases.

Lifestyle changes, including a heart-healthy diet, regular physical activity, and avoiding tobacco exposure, also play a critical role in long-term heart health. A dietitian can provide personalized guidance for nutritious, kid-friendly meals.

Supporting the Whole Family

An FH diagnosis affects more than just the child—it’s important to screen siblings and extended family members as well. When FH is managed early, children can reduce their long-term risk and live just as healthily as their peers.

At the Children’s Clinic in Jackson, TN, we’re here to support families every step of the way. If you have concerns about your child’s cholesterol levels or family heart history, schedule an appointment with our pediatric team today. Early detection and proactive care can make all the difference in protecting your child’s heart health for years to come.

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