In this episode, Dr. Thomas Buttgereit speaks with Dr. Adil Adatia about the latest findings on hereditary angioedema (HAE) in Canada, focusing on the challenges in diagnosing and treating patients with normal C1 inhibitor levels. They explore the differences between well-known genetic variants, discuss the average diagnostic delay of over 10 years, and examine treatment approaches, including long-term prophylaxis and the role of estrogen as a trigger. Additionally, they highlight the need for standardized guidelines in diagnosing and managing this condition to better treatment response.Key Learnings from the EpisodeThe average diagnostic delay for hereditary angioedema with normal C1 inhibitor levels exceeds 10 years in Canada.Patients with normal C1 inhibitor function often experience different triggers, with estrogen and stress being more prominent compared to other angioedema variants. A significant heterogeneous group of patients exists, where genetic mutations have yet to be identified.Many patients require multiple long-term prophylaxis treatments, indicating a more severe disease course.Genetic testing has historically been limited, but recent efforts are increasing its role in diagnosis.The lack of standardized diagnostic criteria across Canada makes it difficult to classify and treat patients uniformly.Insurance coverage for treatments like omalizumab varies by province and county, making access to care inconsistent.There is a need for clear definitions of treatment trials and treatment failures to improve clinical decision-making.Chapters 00:00 Introduction to HAE and the Guest 02:27 Understanding HAE with Normal C1 Inhibitor 05:30 Diagnostic Challenges and Delays 08:21 Comparative Analysis of HAE Types 11:32 Limitations of Current Research 14:34 Treatment Responses and Variability 17:16 Conclusion and Future Directions 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

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