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 Highlights05:15 Lily's Background and Research Journey09:55 Insights from the Global Angioedema Leadership Conference14:07 Research on Diagnosing HAE in Newborns18:29 Future Directions and ConclusionDo 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