What role does genetic testing playin 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.
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David Lomas, MD, PhD
James Stoller, MD, MS