Expert insights into AATD
What role does genetic testing play in AATD-related liver disease?
David Lomas unpacks the critical role of genetic testing in AATD-related liver disease, addressing misconceptions about prevalence and clarifying how SERPINA1 variants shape risk. He explains how to interpret genotypes like PiZZ and PiMZ, highlights complementary tools, and discusses future personalized therapies. Lomas also underscores the importance of primary care, specialist collaboration, and family screening for timely diagnosis. View transcript.
Chapters
00:04 AATD and liver disease risk: Testing
01:47 AATD: Misconceptions in genetic testing
02:30 SERPINA1 variants in AATD and liver risk
03:50 Interpreting PiZZ, PiSZ, PiMZ results
05:24 Complementary tools in genetic testing
06:28 When to consider genetic testing 06:50 Collaboration for early diagnosis
07:45 Genotype impact on care strategies
09:01 Follow-up for high-risk genotypes
09:56 Future of genotype-based therapy
Meet the expert
David Lomas, MD, PhD
David Lomas is Professor of Medicine at University College London (UCL), UK, and Honorary Consultant Respiratory Physician at UCL Hospitals and the Royal Free London Hospitals. He is an NIHR Emeritus Investigator and former Vice Provost (Health) at UCL. His research focuses on α1-antitrypsin deficiency and chronic obstructive pulmonary disease, and he has held senior leadership roles in academic medicine and research policy. He holds trustee roles at Association of Physicians of Great Britain and Ireland, Asthma and Lung UK, and other health organizations.
Disclosures: Inventor on patent PCT/GB2019/051761 that describes the development of small molecules to block the polymerization of Z α1-antitrypsin. The patent has been licensed to Biomarin and one of the molecules, BMN349, is now in clinical trials.
What is the role of primary care providers for patients with AATD?
James Stoller explains why primary care providers (PCPs) are pivotal for timely AATD diagnosis, sharing practical clues for detecting liver and lung involvement. He challenges common misconceptions during the diagnostic process, emphasizing the importance of testing, outlining referral triggers for PCPs, and discussing the promise of AlphaDetect for improving early detection. “Keeping AATD top of mind – especially when alternative explanations exist – is key,” he advises, while highlighting gaps in medical education that impact real-world practice. View transcript.
Chapters
00:05 Why are PCPs key for AATD diagnosis?
01:02 How can PCPs spot AATD in liver and lung?
03:55 Best tools for PCPs to recognize AATD early?
04:40 Adding AATD liver screening to PCP practice
06:07 AlphaDetect: Goals, impact, and insights
08:10 When should PCPs refer suspected AATD?
10:35 Key advice for PCPs
12:01 What AATD education change matters most?
Meet the expert
James Stoller, MD, MS
James Stoller is Chief of Education and Professor of Medicine at Cleveland Clinic, Ohio, USA, and Senior Associate Dean at Case Western Reserve University School of Medicine. His research focuses on chronic obstructive pulmonary disease, AATD, and strategies of care delivery. Stoller has authored/edited over 20 books and over 386 peer-reviewed reports, and serves on editorial boards in respiratory medicine.
Disclosures: No disclosures were declared at the time of recording.
The evolving landscape of AATD treatment
Gerry McElvaney discusses the rapid evolution of AATD care, including emerging RNA and gene‑based therapies, the challenge of proving clinical benefit in a rare and underdiagnosed condition, and why early identification is critical to slowing lung and liver disease progression. McElvaney explains how targeting polymers and restoring functional alpha‑1 levels could stabilize disease across organs, while highlighting the regulatory, patient‑burden, and access barriers that must be overcome to translate innovation into meaningful care. View transcript.
Chapters
00:05 AATD liver disease: Current management
01:40 Investigational therapies in AATD
06:16 Early intervention and the future of AATD
08:53 Barriers to bringing AATD therapies to care
13:21 How can we improve QoL in patients with AATD?
15:35 How might AATD care evolve in 5 years?
16:44 Clinical guidelines in practice
Meet the expert
Gerry McElvaney, MBBCh, FRCPI, DSc
Gerry McElvaney is Head of the School of Medicine and Chair of the Department of Medicine at the Royal College of Surgeons in Ireland Medical School, Dublin. He is an internationally recognized expert in AATD and cystic fibrosis (CF), with over 2 decades of translational research spanning AATD, CF, emphysema, rare lung diseases, and lung inflammation. McElvaney founded the Alpha One Foundation of Ireland and led Europe’s first targeted AATD detection program, playing a key role in advancing diagnosis and therapeutic development across lung and liver disease.
Disclosures: No disclosures were declared at the time of recording.
Pulmonologist perspectives on lung health in AATD
Jorge Lascano explains why pulmonologists must actively consider liver involvement when managing AATD, sharing practical cues to detect early multisystem disease. He outlines how to assess severity across organs, clarifies when hepatology input is required, and emphasizes coordinated decision-making when lung and liver progression differ. Lascano also addresses the challenges of communicating the lung–liver connection to patients, stressing the need for clear education and consistent testing. “AATD isn’t rare – it’s underdiagnosed,” he concludes. View transcript.
Chapters
00:04 Pulmonary clues to liver involvement
01:34 Coordinating lung–liver care in AATD
04:43 Managing mixed lung–liver severity
06:38 Explaining multidisciplinary care
08:08 Coordinating care across specialties
09:23 Advancing integrated AATD care
10:44 Clinical guidelines in practice
12:56 Key closing points
Meet the expert
Jorge Lascano, MD
Jorge Lascano is Professor of Medicine at the University of Florida, Gainesville, USA, and Program Director for the Internal Medicine Residency. Lascano is a pulmonologist specializing in cystic fibrosis, alpha-1 antitrypsin deficiency, chronic obstructive pulmonary disease (COPD), and critical care, and has authored numerous peer-reviewed publications as well as contributed to major clinical trials.
Disclosures: No disclosures were declared at the time of recording.
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