New Insights on Familial Hypercholesterolemia Treatment for Children

Homozygous Familial Hypercholesterolemia

Dear Dr.
Hou,
I have a very lovely daughter who is 3 years old.
A year ago, we discovered that she has familial hypercholesterolemia.
After medical evaluation, her results were as follows: SGOT: 45, SGPT: 16, Total Cholesterol: 766, Triglycerides: 85, HDL: 46.8, LDL: 723.
She is currently taking Questran along with dietary fiber supplements and dietary management.

Recently, her test results were 92/9/25 for GOT/AST 31, GPT/ALT 21, Total Cholesterol 689, Triglycerides 257, HDL 32, LDL 500, and T-Chol/HDL-Chol 21.53.
We would like to know if there are any newer, safer, and more effective treatment options available, as well as any specific precautions we should be aware of.
Thank you for your assistance.
Wishing you good health.

Jia Fei Mao, 30~39 year old female. Ask Date: 2003/11/12

Dr. Hou Jiawei reply Rare Disease

Familial hypercholesterolemia is an autosomal dominant metabolic disorder that is not uncommon in the general population.
It requires dietary management, and when cholesterol levels exceed 200 mg/dL, or when high-density lipoprotein (HDL) is low (less than 35 mg/dL) and low-density lipoprotein (LDL) is high (greater than 130 mg/dL), pharmacological treatment should be initiated.
In addition to Questran, more effective therapies have been developed.
Cholesterol levels between 600-700 mg/dL are still excessively high and can lead to premature atherosclerosis and other vascular diseases.
It is advisable to discuss this further with your physician and nutritionist.
Dr.
Chia-Wei Hou

Reply Date: 2003/11/12

More Info

Familial Hypercholesterolemia (FH) is a genetic disorder characterized by extremely high levels of low-density lipoprotein (LDL) cholesterol, which can lead to early cardiovascular disease. In children, the management of FH is crucial to prevent long-term health complications. Your daughter’s recent cholesterol levels indicate that despite dietary modifications and treatment with Questran (cholestyramine), her LDL levels remain significantly elevated.

Current Treatment Options
1. Dietary Management: This remains the cornerstone of treatment for children with FH. A heart-healthy diet low in saturated fats and cholesterol is essential. Increasing dietary fiber can help lower cholesterol levels. Foods rich in omega-3 fatty acids, such as fish, and those high in soluble fiber, like oats and legumes, can be beneficial.

2. Medications: While cholestyramine is a bile acid sequestrant that can help lower cholesterol, newer medications have emerged that may be more effective and better tolerated:
- Statins: These are the first-line pharmacological treatment for FH in children over the age of 8. Statins work by inhibiting the enzyme HMG-CoA reductase, which plays a central role in cholesterol synthesis in the liver. They have been shown to significantly reduce LDL cholesterol levels and have a favorable safety profile.

- Ezetimibe: This medication can be used in conjunction with statins or alone in younger children. It works by reducing the absorption of cholesterol from the intestine.

- PCSK9 Inhibitors: These are newer agents that have shown promise in adults and are being studied in children. They work by enhancing the liver's ability to remove LDL cholesterol from the blood. While they are not yet widely used in pediatric populations, they may be an option in severe cases.

3. Lipid Clinics: Referral to a specialized lipid clinic can provide access to a multidisciplinary team that can offer tailored treatment plans, including genetic counseling and advanced therapies.

Monitoring and Follow-Up
Regular monitoring of lipid levels is crucial. Given your daughter's current LDL levels, it is essential to continue regular follow-ups with her healthcare provider. The goal is to achieve LDL levels below 130 mg/dL in children with FH.

Special Considerations
1. Family History: Since FH is hereditary, it is important to screen other family members for high cholesterol levels, as early detection can lead to timely intervention.

2. Lifestyle Modifications: Encourage physical activity and a healthy lifestyle. Regular exercise can help improve overall cardiovascular health and assist in managing cholesterol levels.

3. Potential Side Effects of Medications: While most medications for cholesterol management are well-tolerated, it is important to monitor for any side effects, especially when starting new treatments. Common side effects of statins include muscle pain and liver enzyme elevation, which should be monitored through regular blood tests.

4. Psychosocial Support: Children with chronic conditions like FH may face emotional and psychological challenges. Providing support and education about their condition can empower them and help them adhere to treatment.

Conclusion
In summary, while your daughter is currently on Questran, there are newer and potentially more effective treatment options available for managing familial hypercholesterolemia in children. Statins and other medications should be considered, especially given her elevated LDL levels. Regular follow-ups and a comprehensive approach involving dietary management, medication, and lifestyle changes are essential for optimal management of her condition. Always consult with her healthcare provider to determine the best treatment plan tailored to her specific needs.

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