How to Improve Care for Familial Hypercholesterolaemia
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Introduction
Familial hypercholesterolaemia (FH) is a common genetic condition that causes high cholesterol levels from birth. If untreated, it can lead to serious heart disease early in life. Although treatments are available, many people with FH remain undiagnosed or do not receive the right care. A new guide from the International Atherosclerosis Society (IAS) focuses on how to better detect and manage FH using real-world strategies that can be put into everyday practice.
What Is Familial Hypercholesterolaemia?
FH is passed down through families and affects about 1 in 300 people worldwide. People with FH have high levels of "bad" LDL cholesterol, increasing their risk of heart attacks and other heart problems. Early detection and treatment, including healthy lifestyle changes and medications, can save lives. But many health systems still struggle to identify and treat these patients effectively.
Why Is This New Guidance Important?
Previous medical guidelines explained how to treat FH but didn’t offer enough advice on how to put those ideas into action. This new IAS guidance fills that gap by using a field called implementation science. It helps doctors, nurses, health organizations, and governments find practical ways to bring good care into real-world settings.
Key Strategies to Improve FH Care
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Better Screening and Diagnosis
- Train healthcare professionals to spot signs of FH early.
- Use alerts in electronic medical records when high cholesterol is found.
- Encourage cholesterol checks for children and family members of patients with FH (cascade testing).
- Include genetic testing when possible, especially in families with a history of heart disease.
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Genetic Testing and Counseling
- Set up specialized centers to provide safe and accurate testing.
- Offer clear information to help patients understand their test results.
- Use digital tools to support communication within families about FH risk.
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Personalized Treatment Plans
- Create care plans based on each person’s risk, age, and family needs.
- Involve patients in decisions about their treatment.
- Support pregnant women, children, and people with severe forms of FH through dedicated services.
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Advanced Treatments
- For patients with very high cholesterol, a treatment called lipoprotein apheresis may be needed.
- Multidisciplinary teams are recommended to manage these complex cases.
- Regular check-ups and national registries can help track treatment results.
Conclusion
This new IAS guidance gives health professionals around the world a helpful roadmap for delivering better FH care. It emphasizes teamwork, early testing, clear communication, and personalized treatment. By following these strategies, we can make sure more people with FH are identified early and receive the care they need to live longer, healthier lives.