Dried Blood Spot: A Game Changer for HAE Diagnosis

In this episode, Thomas welcomes Dr. Jane Wong from Queen Mary Hospital, Hong Kong, to discuss a groundbreaking method for diagnosing hereditary angioedema (HAE) in regions with limited laboratory access. Traditional tests like complement C4, C1 inhibitor levels and C1 inhibitor function are crucial but not widely available in many parts of the world, delaying diagnosis and treatment.They discuss:🔹 What is dried blood spot (DBS) testing? 🔹 How does DBS compare to conventional lab tests? 🔹 Can DBS be used for large-scale screening and family testing? 🔹 What are the limitations and future applications of DBS? Join us for an in-depth discussion on how this simple, cost-effective method can revolutionize HAE diagnosis and patient care worldwide. Key Learnings from the Episode:Traditional HAE testing (C4, C1 inhibitor levels and function) is limited in many regions, delaying diagnosis and treatment. Dried blood spot (DBS) testing offers a reliable, cost-effective alternative, requiring only a few drops of blood. DBS showed strong correlation with conventional lab results, making it a promising screening tool. DBS allows for easy at-home or community-based sample collection, overcoming logistical barriers. DBS can be used for family screening, identifying undiagnosed relatives in high-risk groups. The method is stable and easy to transport, requiring minimal laboratory infrastructure. More extensive studies are needed to validate DBS for broader population screening. Future applications may include genetic testing for HAE with normal C1 inhibitor cases. Chapters 00:00 Introduction to HAE and Diagnostic Challenges 03:12 Conventional Testing Methods for HAE 05:44 Exploring Alternative Diagnostic Methods 08:25 Validation of the Dried Blood Spot Method 10:40 Family Screening and Community Engagement 13:29 Limitations and Future Directions 16:07 The Future of HAE Diagnostics in Asia-Pacific Do you have suggestions for future episodes? Please provide feedback and offer your suggestions for future topics and expert selection here.Feedback form ATA: ⁠⁠https://forms.office.com/e/ZWxx3D4Cmr