Most parents associate cholesterol with adult health, but approximately 1 in 250 children have high cholesterol due to a genetic condition called familial hypercholesterolemia (FH). This inherited condition isn’t related to diet or lifestyle and puts children at an increased risk for early heart disease, even if they eat well and stay active.

At the Children’s Clinic in Jackson, TN, we are committed to raising awareness about FH and helping families manage this condition effectively. Here’s what you need to know:

What is Familial Hypercholesterolemia (FH)?

Cholesterol is a necessary, fat-like substance found in every cell of the body, produced by the liver and absorbed from foods like meat, eggs, and dairy. While the body usually removes excess cholesterol, children with FH have a genetic mutation that disrupts this process.

As a result, low-density lipoprotein (LDL) cholesterol—commonly referred to as "bad" cholesterol—builds up in their arteries starting at birth. This buildup can lead to early heart attacks or strokes.

Two Types of FH

Heterozygous FH (HeFH):
- The most common form, occurring in 1 in 250 people.
- A child with HeFH inherits a single abnormal FH gene from one parent.
Homozygous FH (HoFH):
- A rare and severe form caused by inheriting abnormal FH genes from both parents.
- HoFH requires immediate treatment and can result in heart attacks as early as the teen years.

Why Early Detection Matters

Many families are unaware of FH until symptoms arise. However, identifying and treating FH early can reduce heart disease risks by up to 80%.

How to Spot Risk Factors:

A family history of heart attacks before age 55 (men) or 65 (women).
Relatives with high cholesterol or coronary artery disease.

If these risks are present, discuss them with your pediatrician, who may recommend early cholesterol screening, even as young as age 2.

Screening Recommendations:

Without family risks: Between ages 9–11.
With family risks: Starting at age 2.

Recognizing Warning Signs

Children with extremely high cholesterol levels (LDL over 400 mg/DL for HoFH) may develop:

Xanthomas: Yellow or orange cholesterol deposits on the elbows, knees, or fingers.
Xanthelasmas: Deposits near the eyes.

If you notice these signs, contact your pediatrician immediately.

Treatment Options for FH

Managing FH involves a combination of medication, diet, and lifestyle changes. Your pediatrician may refer your child to a specialist in heart health and lipids.

Common Treatments Include:

Statins: Medications that reduce cholesterol production in the liver.
Non-statin drugs: Help lower LDL cholesterol using alternative pathways.
Lipoprotein Apheresis: A weekly procedure to remove cholesterol directly from the blood (used in severe cases).

In addition to medication, a heart-healthy diet and regular physical activity are crucial. A dietitian can provide personalized meal plans to support your child’s health.

Family Support and Screening

An FH diagnosis affects the entire family. Siblings should also be screened, and extended family members should be informed about the potential genetic risks. Addressing FH early allows children to lower their risks to levels comparable to those without the condition.

At the Children’s Clinic in Jackson, TN, we support families in navigating treatment plans and maintaining a balanced lifestyle. If your child has been diagnosed with FH or you have concerns about their cholesterol levels, reach out to us. Together, we can work toward a healthier future for your child and your family.

For additional support or to schedule a screening, contact the Children’s Clinic in Jackson, TN, where we’re dedicated to your child’s health and well-being.

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