Patient Advocacy in HAE: Voices That Matter

Patient Advocacy in HAE: Voices That Matter

In this episode of All Things Angioedema, Dr. Thomas Buttgereit speaks with Patricia Karani, patient advocate from Kenya, about her personal journey with hereditary angioedema (HAE) and her work supporting patients across sub-Saharan Africa. Recorded in the context of the Global Angioedema Leadership Conference (GALC), this episode brings a powerful patient perspective to the discussion. They discuss: 🔹 What is it like to live with undiagnosed HAE for decades? 🔹 Why is delayed diagnosis still a major challenge worldwide? 🔹 What barriers do patients face in accessing life-saving treatments? 🔹 How can patient advocacy help improve awareness and healthcare systems? 🔹 Why is collaboration with governments essential for access to therapies? 🔹 How can patients become advocates and drive change in their regions? Patricia shares her story of nearly 30 years without proper diagnosis or treatment, and how this experience shaped her mission to support others. The episode highlights the importance of awareness, building patient networks, and advocating for better access to treatment—especially in regions where rare diseases are often overlooked. Key Learnings from the Episode: HAE diagnosis can be delayed for decades, leading to significant suffering. Misdiagnosis as allergies is common and delays proper treatment. Access to HAE therapies remains a major challenge in many regions. Patient advocacy is essential to raise awareness and improve care. Collaboration with governments is key to making treatments affordable. Building patient networks helps identify and support affected individuals. Education of healthcare professionals is critical for earlier diagnosis. Living with controlled HAE enables patients to live a full life. Personal experiences can be a powerful driver for advocacy. Global collaboration strengthens patient support and healthcare improvements. Chapters: 00:00 Introduction to Angioedema and the Podcast 01:51 Patient Advocacy and the Global Angioedema Leadership Conference 06:40 Patricia's Journey with Hereditary Angioedema 10:15 Challenges in Patient Advocacy and Awareness 17:03 Motivation Behind Patient Advocacy and Living Fully 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 [⁠⁠⁠⁠⁠⁠⁠https://forms.office.com/e/ZWxx3D4Cmr⁠]

Early Diagnosis of HAE in Newborns

In this episode of All Things Angioedema, Dr. Thomas Buttgereit speaks with Dr. Lili Voloncs-Mindszenthy from Semmelweis University, Hungary, recipient of the Young Investigator Award at the Global Angioedema Leadership Conference (GALC) 2026. They discuss her groundbreaking research on improving the early diagnosis of hereditary angioedema (HAE) in newborns. They discuss: 🔹 Why is diagnosing HAE in newborns particularly challenging? 🔹 Which complement biomarkers can reliably indicate HAE from birth? 🔹 Why are C1 inhibitor levels and function more informative than other complement factors? 🔹 What are the limitations of current diagnostic approaches, including genetic testing? 🔹 How can early diagnosis improve patient outcomes and family screening? 🔹 What are the next steps in validating these findings for clinical use? Dr. Voloncs-Mindszenthy shares insights from her study using umbilical cord blood samples, identifying consistent patterns in C1 inhibitor levels and function that may allow for much earlier diagnosis of HAE. The episode highlights the potential to move diagnosis closer to birth and improve early intervention strategies. Key Learnings from the Episode: Diagnosing HAE in newborns is challenging due to an immature complement system. Early diagnosis is crucial, especially in families with known HAE history. C1 inhibitor antigenic levels and function show consistent patterns in HAE newborns. These parameters may serve as reliable early biomarkers for HAE. Other complement factors such as C3 and C4 show high variability and are less reliable. Genetic testing is useful but not always readily available or practical. Umbilical cord blood testing offers a practical early diagnostic opportunity. Larger studies are needed to establish newborn-specific reference ranges. Early detection can improve patient management and enable family screening. The research highlights a promising step toward diagnosing HAE from birth. Chapters: 00:00 Introduction to Angioedema and the Conference Highlights 05:15 Lily's Background and Research Journey 09:55 Insights from the Global Angioedema Leadership Conference 14:07 Research on Diagnosing HAE in Newborns 18:29 Future Directions and Conclusion 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 [⁠⁠⁠⁠⁠⁠⁠https://forms.office.com/e/ZWxx3D4Cmr⁠]

HAE Awareness and Diagnosis in the Middle East

In this episode of All Things Angioedema, Dr. Thomas Buttgereit speaks with Prof. Maohamed Abuzakouk, Chair of Allergy and Clinical Immunology at Cleveland Clinic Abu Dhabi, about the evolving landscape of hereditary angioedema (HAE) care in the United Arab Emirates and the wider Middle East region. With more than three decades of experience in allergy and immunology across Ireland, the UK, and the Gulf region, Prof. Abuzakouk shares valuable insights into how awareness, diagnosis, and treatment of HAE have developed in recent years. They discuss: 🔹 How does hereditary angioedema typically present in patients in the UAE and are there regional differences compared to Europe or North America? 🔹 What challenges contribute to delayed diagnosis, including misdiagnosis as allergic angioedema or surgical abdominal emergencies? 🔹 How do cultural and genetic factors, such as higher rates of consanguinity, influence HAE detection and family clustering? 🔹 What initiatives have improved physician awareness and education across the region in the past decade? 🔹 How do regional consensus statements help adapt international HAE guidelines to local healthcare systems? 🔹 Which modern therapies for on-demand treatment and long-term prophylaxis are currently available in the UAE? 🔹 Why are national and regional HAE registries essential for improving diagnosis and patient care in the Middle East? Prof. Abuzakouk highlights the remarkable progress made in the UAE, including improved access to diagnostic testing, modern therapies, and international collaborations with networks such as GA²LEN and ACARE. At the same time, he emphasizes the importance of continuing efforts to identify undiagnosed patients, establish regional registries, strengthen patient advocacy groups, and expand education for healthcare providers. The discussion concludes with a clear vision for the future: eliminating diagnostic delays, improving quality of life for all patients with HAE, and ultimately achieving zero preventable mortality from the disease. Key Learnings from the Episode: Hereditary angioedema in the UAE presents clinically similar to cases in Europe and North America. Higher rates of consanguinity may contribute to larger affected families and genetic clustering. Delayed diagnosis remains a challenge, particularly in older generations of patients. Abdominal HAE attacks are frequently misdiagnosed as surgical emergencies. Educational initiatives and small-group training programs have significantly improved awareness among clinicians. Improved laboratory access to C4 and C1 inhibitor testing has facilitated earlier diagnosis. Regional consensus guidelines emphasize early diagnosis and universal access to on-demand therapy. Specialized allergy and immunology centers remain limited across the region. Chapters: 00:00 Introduction to HAE in the UAE 06:58 Challenges and Regional Differences in HAE 09:52 Awareness and Education Efforts 11:12 Regional Consensus on HAE Management 14:05 Future Steps for HAE Care in the UAE 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 [⁠⁠⁠⁠⁠⁠⁠https://forms.office.com/e/ZWxx3D4Cmr⁠]

tPA-Induced Angioedema

In this episode of All Things Angioedema, Dr. Thomas Buttgereit speaks with Dr. Maria Bova, allergist and clinical immunologist from Naples, Italy, about a rare but potentially life-threatening form of angioedema: angioedema induced by thrombolytic therapy, particularly tissue plasminogen activator (tPA). They discuss: 🔹 What is tPA-induced angioedema and how often does it occur in stroke patients? 🔹 Why is this condition frequently underrecognized in emergency and intensive care settings? 🔹 What clinical features distinguish it from histaminergic and hereditary angioedema? 🔹 Which pathophysiological mechanisms are likely involved, including bradykinin activation? 🔹 What new research findings suggest immune cell dysregulation in affected patients? 🔹 Which patient- and treatment-related risk factors may increase susceptibility? 🔹 How should clinicians approach diagnosis and acute management in the absence of clear guidelines? Dr. Bova shares novel insights from her group’s research, including evidence for activation of the kallikrein-kinin system and elevated cleaved high-molecular-weight kininogen during attacks. The discussion highlights the urgent need for greater awareness, interdisciplinary collaboration between neurologists and immunologists, and clearer treatment algorithms, especially given the limitations of standard antihistamine and corticosteroid therapy in this condition. The episode concludes with a look toward future thrombolytic agents and their potential role in reducing angioedema risk. Key Learnings from the Episode: tPA-induced angioedema is a rare but serious complication of thrombolytic therapy. Prevalence varies widely and is likely underestimated in emergency settings. Angioedema typically develops within two hours after tPA administration. Common sites include lips, tongue, face, eyelids, and upper airways. The condition occurs without urticaria or itching and may last up to 24 hours. Evidence suggests a predominantly bradykinin-mediated mechanism. Immune cell activation and kallikrein-kinin system dysregulation play a role. Standard treatments (antihistamines, corticosteroids, adrenaline) are often ineffective. Bradykinin-targeted therapies such as icatibant or C1 inhibitor may be beneficial. Awareness among neurologists significantly increases detection rates. Multidisciplinary collaboration is essential for early recognition and management. New thrombolytic agents may reduce angioedema risk, but data are still limited. Chapters: 00:00 Introduction to Angioedema and TPA 01:43 Meet Dr. Maria Bova: Expert Insights 03:00 Prevalence and Recognition of TPA-Induced Angioedema 04:58 Pathophysiology of TPA-Induced Angioedema 08:55 Risk Factors for Angioedema in Stroke Patients 11:53 Clinical Presentation and Symptoms 13:12 Treatment Approaches for Angioedema 16:00 Awareness and Multidisciplinary Strategies 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 [⁠⁠⁠⁠⁠⁠⁠https://forms.office.com/e/ZWxx3D4Cmr⁠]

Building an Angioedema Center: From Vision to Reality

In this episode of All Things Angioedema, Dr. Thomas Buttgereit speaks with Dr. Mark Kačar from Slovenia about the practical, clinical, and organizational steps required to establish a dedicated angioedema center within the ACARE network. Drawing from Mark’s unique experience of helping build angioedema services in multiple countries, the conversation offers valuable insights for clinicians worldwide.  They discuss: 🔹 Why are specialized angioedema centers essential for optimal patient care?  🔹 What clinical expertise, diagnostics, and infrastructure are truly required?  🔹 Which ACARE criteria are most challenging for smaller or emerging centers?  🔹 How can education, registries, and collaboration strengthen national care pathways?  Dr. Kačar shares lessons from Slovenia’s healthcare system, where centralized expertise is key for managing rare and complex diseases like angioedema. He discusses the importance of clinical experience, multidisciplinary teamwork, access to diagnostics and genetics, patient education initiatives, and the realities of meeting ACARE requirements. Together, they highlight how international collaboration, training fellowships, and strong doctor–patient relationships form the foundation of sustainable centersof excellence in angioedema care.  Key Learnings from the Episode: Dedicated angioedema centers improve care by centralizing expertise and experience for rare diseases.  Small countries such as Slowenia benefit from national referral structures rather than fragmented outpatient care.  ACARE certification requires fulfillment of 32 defined criteria, many embedded in daily clinical practice.  Key challenges include staffing specialized nurses, participation in registries, and access to clinical trials.  Strong diagnostic capabilities, including complement studies and genetics, are essential.  Training experiences at established centers accelerate knowledge transfer and best practices.  Patient education events and collaboration with international patient organizations enhance care quality.  Building an ACARE center is a gradual process driven by teamwork, commitment, and global networking.  Chapters: 00:00 Introduction to Angioedema and ACARE 01:39 Mark's Journey in Allergy and Immunology 05:06 Importance of a Dedicated Angioedema Center 07:56 Experiences from Charité and Clinical Insights 11:16 Challenges in Establishing the Center 16:11 Patient Education and Resources 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 [⁠⁠⁠⁠⁠⁠⁠https://forms.office.com/e/ZWxx3D4Cmr⁠]