Breathwork: Alpha-1 Antitrypsin Deficiency: Insights from Professor Gerry McElvaney (Part 2)

This episode explores Alpha-1 Antitrypsin Deficiency, focusing on diagnosis, pathophysiology, and evolving treatments. Professor Gerry McElvaney discusses prevalence in Ireland, the impact on lung and liver disease, and why early detection significantly improves outcomes. Key topics include: Prevalence and genotypes (ZZ, MZ, SZ) Lung and liver disease, plus manifestations like panniculitis and vasculitis Diagnostic challenges: levels vs genotype/phenotype and need for multimodal testing Importance of early detection, smoking cessation, and targeted intervention Emerging therapies: RNA editing, gene silencing, and potential cures Screening strategies, including newborn screening and cost-benefit considerations Role of polymers in disease progression Gaps in treatment access and need for healthcare reform Professor Gerry McElvaney is a global leader in Alpha-1 research, founder of the Alpha-1 Foundation of Ireland, and Director of the Cystic Fibrosis Unit at Beaumont Hospital. His work has positioned Ireland at the forefront of Alpha-1 detection and research. Hosts: Dr Barry Harnedy – Respiratory trainee, Irish Thoracic Society Educational Officer Sandra Green – Respiratory fellow, co-founder of Irish Doctors for the Environment and ITS Podcast Productions Contact: [email protected] Chapters (highlights): 00:05 Intro | 01:00 Vaping & inflammation | 02:00 Diagnosis pitfalls 03:20 Future therapies | 04:50 Screening importance | 07:00 Treatment advances 10:00 Genetics explained | 12:00 Smoking impact | 13:40 Newborn screening 16:00 Gene therapies | 17:30 Key takeaways Key message: Test comprehensively, detect early, intervene early, and remain optimistic about emerging therapies. References: Fraughen DD, et al. Am J Respir Crit Care Med. 2023;208:964–974. McElvaney NG, et al. Lancet Respir Med. 2017;5:51–60. Molloy K, et al. Am J Respir Crit Care Med. 2014;189:419–427. Franciosi AN, et al. Am J Respir Crit Care Med. 2020;202:73–82. Leacy EJ, et al. Am J Respir Crit Care Med. 2025;211:2408–2410. McElvaney OJ, et al. Med (N Y). 2022;3:233–248. Franciosi AN, et al. COPD. 2021;18:76–82.