Children and Familial Hypercholesterolemia: What Parents Should Know

Medically Reviewed By Dr. Gina Jansheski, M.D., pediatrician and Fellow of the American Academy of Pediatrics.

Learning that your child has familial hypercholesterolemia (FH) can feel overwhelming. You might have Learning that your child has familial hypercholesterolemia (FH) can feel overwhelming. You might have heard about high cholesterol in adults, but when it comes to children, it’s a different story. FH is a genetic condition that causes high levels of low-density lipoprotein (LDL) cholesterol—often called “bad” cholesterol—even from birth. And while high cholesterol is something most people become concerned about in their 40s or 50s, for children with FH, managing cholesterol levels starts much earlier.

As a parent, understanding what FH means for your child’s health and how to manage it can make a huge difference in preventing future heart disease. In this post, we’ll discuss the challenges for families affected by FH, what you can do to support your child, and the importance of early intervention and lifestyle changes in dealing with the condition.

What is Familial Hypercholesterolemia?

Familial hypercholesterolemia is an inherited disorder that affects the way the body processes cholesterol. Normally, your body clears LDL cholesterol from the blood to maintain healthy levels. But people with FH have a genetic mutation that interferes with this process, causing cholesterol to build up in their arteries from a young age. This leads to atherosclerosis (narrowing and hardening of the arteries) and increases the risk of heart attacks and strokes, often occurring much earlier in life than in people without FH.

There are two main forms of FH:

Heterozygous FH (HeFH): This occurs when the child inherits the gene mutation from one parent. It’s the more common form, affecting about 1 in 250 people.
Homozygous FH (HoFH): This rarer, more severe form occurs when the child inherits two copies of the mutated gene—one from each parent. It is said to affect 1 in every 400,000 individuals. People with HoFH often experience extremely high cholesterol levels and may develop cardiovascular disease in childhood or adolescence.

Challenges of FH in Children

When it comes to FH in children, one of the biggest concerns is that they don’t typically show outward symptoms. Your child might feel completely healthy, but their cholesterol levels are building up silently. This can make it difficult to grasp the severity of the situation. That’s why regular screenings and early detection are so important—FH is a condition that requires proactive management from the start.

For many families, the discovery of FH begins with a family history of early heart disease or high cholesterol. If you or a close relative has been diagnosed with FH, it’s crucial to have your child tested. Early detection allows for treatment to begin as soon as possible, reducing the risk of cardiovascular disease later in life.

Pediatric Care for FH

If your child is diagnosed with FH, partnering with a pediatric cardiologist is essential. Managing FH in children may require a specialized approach. . Pediatric care will focus on two main areas: monitoring cholesterol levels and managing long-term cardiovascular risk.

Monitoring Cholesterol Levels

Doctors may recommend starting cholesterol screening as early as age 2 if there’s a strong family history of FH or evidence of early heart disease. For children without a known family history, testing is typically recommended around age 9-11. Early diagnosis allows for treatment to start before significant artery damage occurs.

Cholesterol levels in children with FH can be significantly higher than expected for their age. Typically, LDL cholesterol levels will be higher than 160 mg/dL, and in severe cases of HoFH, they can exceed 400 mg/dL. Regular blood tests to monitor your child’s cholesterol levels are crucial in tracking the effectiveness of any treatments or lifestyle changes.

Managing Long-Term Risk

The goal of pediatric care for FH is to reduce your child’s long-term risk of cardiovascular disease. This includes a combination of medications (if needed), dietary changes, and physical activity. It’s important to remember that managing FH is a lifelong commitment, but by starting early, you can greatly improve your child’s chances of staying healthy into adulthood.

Medications for Children with FH

For many children with FH, lifestyle changes alone won’t be enough to bring their cholesterol levels down to a safe range. In these cases, doctors may prescribe cholesterol-lowering medications.

Statins: These are the most common medications used to treat FH in both children and adults. Statins work by reducing the amount of cholesterol the liver produces, which helps lower LDL levels in the blood. Research shows that statins are safe and effective for children with FH, and they can significantly reduce the risk of heart disease when started early.
Ezetimibe: This medication may be prescribed in addition to statins to further reduce cholesterol levels. It works by blocking the absorption of cholesterol from the food your child eats.
Proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors: For children with very high cholesterol levels, especially those with HoFH, PCSK9 inhibitors may be recommended. These newer medications help the liver remove more LDL cholesterol from the bloodstream.

While the idea of putting a child on medication can feel daunting, it’s important to weigh the long-term benefits. Untreated FH can lead to early heart attacks or even the need for heart surgery, so starting treatment early can significantly reduce these risks.

Lifestyle Changes for Children with FH

In addition to medication, lifestyle changes are a critical part of managing FH. While FH is a genetic condition and not caused by poor diet or lack of exercise, these healthy habits can help lower cholesterol levels and improve overall heart health.

Heart-Healthy Diet

As a parent, one of the most impactful things you can do is encourage your child to follow a heart-healthy diet. This includes the following:

Focus on healthy fats: Incorporate natural sources of unsaturated fats, like olive oil, avocados, and nuts, which are beneficial for heart health.
Limit saturated and trans fats: These fats can raise LDL cholesterol levels. Foods like butter, full-fat dairy products, and fried foods should be minimized.
Increase fiber intake: Foods rich in soluble fiber, such as oats, beans, and fruits, can help lower cholesterol levels.

It’s also important to teach your child about the importance of making healthy food choices. Involving them in meal planning and preparation can help them feel more empowered and engaged in their health. This tends to work best when the whole family makes these dietary changes.

Encouraging Physical Activity

Exercise plays a key role in managing cholesterol levels and maintaining a healthy weight. Encourage your child to engage in regular physical activity, whether it’s a team sport, swimming, biking, or simply playing outside. Aim for at least 60 minutes of activity a day, as recommended by the American Heart Association.

Making exercise fun and part of your family’s routine can help your child develop healthy habits that last a lifetime.

Emotional and Psychological Support

Being diagnosed with FH can be a lot for a child to handle, especially as they get older and become more aware of the condition. It’s normal for children to feel anxious or upset about taking medication or having to make dietary changes. As a parent, providing emotional support and reassurance is key.

Encourage open conversations about their health, and let your child know that FH is something they can manage with the right tools and care. Support groups or speaking with a counselor who specializes in pediatric health can also help children and families navigate the emotional side of living with FH.

Taking Action Early

Familial hypercholesterolemia is a serious condition, but with early diagnosis and proactive management, children with FH can lead healthy, active lives. As a parent, it’s important to stay informed, work closely with your child’s healthcare team, and create a supportive environment that encourages heart-healthy habits. By identifying FH early and taking the right steps, you can significantly reduce your child’s risk of cardiovascular disease and set them up for a healthier future.

If you have a family history of FH or early heart disease, talk to your child’s doctor about screening. Early detection and treatment are the keys to managing FH and protecting your child’s heart for the long term.

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Children and Familial Hypercholesterolemia: What Parents Should Know