When we think about cholesterol issues, we often picture adults making dietary changes to lower their risk of heart disease. But what happens when high cholesterol starts much earlier in life? Familial Hypercholesterolemia (FH) is a genetic condition that can lead to dangerously high cholesterol levels, even in young children. Let’s dive into what this condition is, how it affects children, and what parents can do to manage it.

What is Familial Hypercholesterolaemia?

Familial Hypercholesterolaemia is an inherited condition that affects the way the body processes cholesterol. People with FH have a mutation in one of the genes responsible for removing low-density lipoprotein (LDL) cholesterol—often referred to as “bad cholesterol”—from the bloodstream. As a result, LDL cholesterol builds up, increasing the risk of early heart disease.

FH affects approximately 1 in 250 people globally, making it one of the most common genetic disorders. However, it is often underdiagnosed, especially in children.

Signs and Symptoms in Children

In most cases, children with FH don’t show obvious symptoms. However, some signs can include:

• Extremely high LDL cholesterol levels on routine blood tests. This is a blood test which is rarely done, but I recommend you consider it if you know there is a family history of very high cholesterol, or if you know that family members have died early from cardiovascular disease.
• Xanthomas: Fatty deposits that appear as yellowish bumps on the skin, particularly around the joints. These can be small or quite pronounced, and definitely something to take note of.
• Corneal arcus: A gray or white ring around the cornea of the eye, which can appear at a young age. Have a look at your child’s eyes. The white ring is pretty obvious, you don’t need any special training to see it.

It’s important to note that these signs often don’t appear until cholesterol levels have been elevated for a long time, which is why early screening is crucial.

Why Early Detection Matters

Without treatment, children with FH are at a significantly higher risk of developing cardiovascular issues, including heart attacks, at a much younger age than the general population. Early detection and management can drastically reduce these risks and help children lead healthy, active lives.

Diagnosing familial hypercholesterolaemia

Diagnosis usually involves:

1. Family history: A close relative with early-onset heart disease or diagnosed FH can be a red flag.
2. Blood tests: Checking LDL cholesterol levels.
3. Genetic testing: Identifying mutations in specific genes linked to FH.

If one parent has FH, there’s a 50% chance of passing it on to their child. If both parents have FH, the condition may be more severe.

Managing Familial Hypercholesterolaemia in Children

Managing FH involves a combination of lifestyle changes and medical interventions:

1. Dietary Changes

• Increase heart-healthy foods: Focus on fruits, vegetables, whole grains, and lean proteins.
• Limit saturated and trans fats: Avoid processed foods, fried foods, and high-fat dairy products.
• Include healthy fats: Add sources of omega-3 fatty acids, such as fish, chia seeds, and walnuts.

The best way to think about the dietary changes is to consider the Mediterranean diet. It will improve heart health, but also mental health and cognitive health.

2. Encourage Physical Activity

Regular exercise can help manage cholesterol levels and support overall heart health. Aim for at least an hour of physical activity each day, such as biking, swimming, or playing sports.

3. Supplements

Diet and lifestyle changes alone may not be enough. You can also consider the use of psyllium, omega-3 fatty acids and soy. Herbs to consider include cinnamon, dandelion, green tea and shiitake. A consultation with one of our Naturopaths will define which herbs are best for your child.

4. Regular Monitoring

Children with familial hypercholesterolaemia should have regular check-ups to monitor cholesterol levels and assess heart health. This ensures that their treatment plan is working effectively. Medication may be required after diet, lifestyle, herbs and supplements have been implemented.

Emotional Support for Families

A diagnosis of familial hypercholesterolaemia can feel overwhelming, but families don’t have to navigate it alone. Connecting with healthcare professionals, support groups, and other families facing similar challenges can provide valuable guidance and encouragement.

The Role of Naturopathic Support

As a paediatric naturopath, I focus on creating holistic care plans to support children with FH. This includes:

• Identifying nutrient deficiencies and optimising diet.
• Supporting healthy liver function to aid cholesterol processing.
• Incorporating stress management techniques, as stress can impact cardiovascular health.

Final Thoughts

While Familial Hypercholesterolaemia may sound daunting, early detection and proactive management can make a world of difference. By combining medical interventions with lifestyle changes, children with FH can grow up healthy and resilient.

If you’re concerned about your child’s cholesterol levels or family history, don’t hesitate to reach out. Together, we can create a plan tailored to your child’s unique needs.

For more information about my services, visit The Paediatric Naturopath. You can ask for a health care plan from your GP for subsidised sessions with our dietitian.