Alpha-1-antitrypsin deficiency

By Mayo Clinic Staff
Dec. 06, 2025
  1. Alzheimer's disease genetics fact sheet. National Institute on Aging. https://www.nia.nih.gov/health/alzheimers-disease-genetics-fact-sheet. Accessed July 3, 2025.
  2. Broaddus VC, et al., eds. COPD: Pathogenesis and natural history. In: Murray and Nadel's Textbook of Respiratory Medicine. 7th ed. Elsevier; 2022. https://www.clinicalkey.com. Accessed July 1, 2025.
  3. Alpha-1 antitrypsin deficiency. National Heart, Lung, and Blood Institute. https://www.nhlbi.nih.gov/health/alpha-1-antitrypsin-deficiency. Accessed May 2, 2025.
  4. Learn about alpha-1 antitrypsin deficiency. American Lung Association. https://www.lung.org/lung-health-diseases/lung-disease-lookup/alpha-1-antitrypsin-deficiency/learn-about-alpha-1-antitrypsin-defiency. Accessed May 2, 2025.
  5. Strnad P, et al. Alpha1-antitrypsin deficiency. The New England Journal of Medicine. 2020; doi:10.1056/NEJMra1910234.
  6. Erion DM, et al. Editing approaches to treat alpha-1 antitrypsin deficiency. Chest. 2025; doi:10.1016/j.chest.2024.09.038.
  7. Ferri FF. Chronic obstructive pulmonary disease. In: Ferri's Clinical Advisor 2025. Elsevier; 2025. https://www.clinicalkey.com. Accessed July 1, 2025.
  8. Alpha 1-antitrypsin deficiency. Genetic and Rare Diseases Information Center.. https://rarediseases.info.nih.gov/diseases/5784/alpha-1-antitrypsin-deficiency. Accessed May 13, 2025.
  9. Wahlin S, et al. Epidemiology and outcomes of alpha-1 antitrypsin deficiency in Sweden 2002-2020: A population-based cohort study of 2286 individuals. Journal of Internal Medicine. 2025; doi:10.1111/joim.20058.
  10. Mulkareddy V, et al. Pulmonary manifestations of alpha 1 antitrypsin deficiency. American Journal of the Medical Sciences. 2024; doi:10.1016/j.amjms.2024.04.002.
  11. Rademacher L, et al. Cleaning up alpha-1 antitrypsin deficiency related liver disease. Current Opinion in Gastroenterology. 2023; doi:10.1097/MOG.0000000000000919.
  12. Ruiz M, et al. Pediatric and adult liver disease in alpha-1 antitrypsin deficiency. Seminars in Liver Disease. 2023; doi:10.1055/a-2122-7674.
  13. Adam MP, et al., eds. Alpha-1 antitrypsin deficiency. In: GeneReviews. University of Washington, Seattle; 1993-2025. https://www.ncbi.nlm.nih.gov/books/NBK1116. Accessed May 8, 2025.
  14. Strnad P, et al. Fazirsiran for liver disease associated with alpha1-antitrypsin deficiency. The New England Journal of Medicine. 2022; doi:10.1056/nejmoa2205416.
  15. Sandhaus RA, et al. The diagnosis and management of alpha-1 antitrypsin deficiency in the adult. Chronic Obstructive Pulmonary Diseases. 2016; doi:10.15326/jocpdf.3.3.2015.0182.
  16. Stoller JK. Extrapulmonary manifestations of alpha-1 antitrypsin deficiency. https://www.uptodate.com/contents/search. Accessed May 19, 2025.
  17. Lee L. Panniculitis: Recognition and diagnosis. https://www.uptodate.com/contents/search. Accessed May 19, 2025.
  18. Cannon L, et al. Recent advances in pediatric vasculitis. Rheumatic Disease Clinics of North America. 2021; doi:10.1016/j.rdc.2021.07.007.
  19. Cirrhosis. National Institute of Diabetes and Digestive and Kidney Diseases. https://www.niddk.nih.gov/health-information/liver-disease/cirrhosis/definition-facts. Accessed May 20, 2025.
  20. Friedman SL. Pathogens of liver fibrosis. https://www.uptodate.com/contents/search. Accessed May 20, 2025.
  21. Genetic testing frequently asked questions. National Human Genome Research Institute. https://www.genome.gov/FAQ/Genetic-Testing. Accessed July 3, 2025.
  22. Schneider CV, et al. Alpha-1 antitrypsin deficiency and primary liver cancers. Biochimica et Biophysica Acta (BBA) — Reviews on Cancer. 2025; doi:10.1016/j.bbcan.2025.189290.
  23. Stoller JK. Clinical manifestations, diagnosis, and natural history of alpha-1 antitrypsin deficiency. https://www.uptodate.com/contents/search. Accessed May 21, 2025.
  24. Tejwani V, et al. The spectrum of clinical sequelae associated with alpha-1 antitrypsin deficiency. Therapeutic Advances in Chronic Disease. 2021; doi:10.1177/2040622321995691.
  25. Vasculitis. National Heart, Lung, and Blood Institute. https://www.nhlbi.nih.gov/health/vasculitis. Accessed May 22, 2025.
  26. Elsevier Point of Care. Clinical Overview: Alpha1-antitrypsin deficiency. https://www.clinicalkey.com. Accessed June 27, 2025.
  27. COPD. National Heart, Lung, and Blood Institute. https://www.nhlbi.nih.gov/health/copd. Accessed May 27, 2025.
  28. Stoller JK. Treatment of emphysema from alpha-1 antitrypsin deficiency. https://www.uptodate.com/contents/search. Accessed May 28, 2025.
  29. Rondanelli M, et al. Practical dietary advices for subjects with alpha-1 antitrypsin deficiency. Biomedicine and Pharmacotherapy. 2023; doi:10.1016/j.biopha.2023.114753.
  30. O'Shea O, et al. Physical activity, exercise capacity and sedentary behavior in people with alpha-1 antitrypsin deficiency: A scoping review. Dovepress. 2023; doi:10.2147/COPD.S389001.
  31. Zhu Y, et al. Mind-body exercise for patients with stable COPD on lung function and exercise capacity: A systematic review and meta-analysis of RCTs. Canadian Respiratory Journal. 2021; doi:10.1155/2021/1904231.
  32. Broaddus VC, et al., eds. COPD: Smoking hazards: Cigarettes, vaping and marijuana. In: Murray and Nadel's Textbook of Respiratory Medicine. 7th ed. Elsevier; 2022. https://www.clinicalkey.com. Accessed June 30, 2025.
  33. Fromme M, et al. Alcohol consumption and liver phenotype of individuals with alpha-1 antitrypsin deficiency. Liver International. 2024; doi:10.1111/liv.16044.
  34. Brown RS Jr. Immunizations for adults with chronic liver disease. https://www.uptodate.com/contents/search. Accessed May 29, 2025.
  35. Surgery for COPD. American Lung Institute. https://www.lung.org/lung-health-diseases/lung-disease-lookup/copd/treating/surgery. Accessed May 29, 2025.
  36. Martinez FJ. Lung volume reduction surgery in COPD. https://www.uptodate.com/contents/search. Accessed May 29, 2025.
  37. Screening for lung cancer US Preventive Services Task Force Recommendation Statement. JAMA. 2021; doi:10.1001/jama.2021.1117.
  38. Emphysema. American Lung Association. https://www.lung.org/lung-health-diseases/lung-disease-lookup/emphysema. Accessed June 27, 2025.
  39. Gaglio PJ. Liver transplantation in adults: Long-term management of transplant recipients. https://www.uptodate.com/contents/search. Accessed June 2, 2025.
  40. De Soyza J, et al. Bronchiectasis occurs independently of chronic obstructive pulmonary disease in alpha-1 antitrypsin deficiency. Chronic Obstructive Pulmonary Diseases: Journal of the COPD Foundation. 2024; doi:10.15326/jcopdf.2024.0526.
  41. Rigotti NA, et al. Treatment of tobacco smoking. JAMA. 2022; doi:10.1001/jama.2022.0395.
  42. Wang Z, et al. Effects of smoking cessation on individuals with COPD: A systematic review and meta-analysis. Frontiers. 2024; doi:10.3389/fpubh.2024.1433269.
  43. What is COPD? National Heart, Blood, and Lung Institute. https://www.nhlbi.nih.gov/health/copd. Accessed June 30, 2025.
  44. Vasculitis. American College of Rheumatology. https://rheumatology.org/patients/vasculitis. Accessed June 2, 2025.
  45. Symptoms, diagnosis and treatment of excessive blood clotting (hypercoagulation). American Heart Association. https://www.heart.org/en/health-topics/venous-thromboembolism/symptoms-and-diagnosis-of-excessive-blood-clotting-hypercoagulation. Accessed June 2, 2025.
  46. Conditions treated by heart surgery. National Heart, Lung, and Blood Institute. https://www.nhlbi.nih.gov/health/heart-surgery/conditions. Accessed June 2, 2025.
  47. Beiko T, et al. Anxiety and depression in patients with alpha-1 antitrypsin deficiency: current insights and impact on quality of life. Therapeutic Clinical Risk Management. 2019; doi:10.2147/TCRM.S175369.
  48. Scott AJ, et al. Cognitive behavioral therapies for depression and anxiety in people with chronic disease: A systematic review and meta-analysis. Clinical Psychology Review. 2023; doi:10.1016/j.cpr.2023.102353.
  49. Jiakponna EC, et al. Psychosocial factors in chronic disease management: Implications for health psychology. International Journal of Science and Research Archive. 2024; doi:10.30574/ijsra.2024.12.2.1219.
  50. Understanding your COPD medications. American Lung Association. https://www.lung.org/lung-health-diseases/lung-disease-lookup/copd/treating/copd-medications. Accessed June 27, 2025.
  51. King Han M, et al. Chronic obstructive pulmonary disease: Diagnosis and staging. https://www.uptodate.com/contents/search. Accessed July 1, 2025.
  52. Franciosi AN, et al. Alpha-1 antitrypsin deficiency-associated panniculitis. Journal of the American Academy of Dermatology. 2022; doi:10.1016/j.jaad.2021.01.074.
  53. Rigobello C, et al. Exome sequencing reveals immune genes as susceptibility modifiers in individuals with α1-antitrypsin deficiency. Nature. 2019; doi:10.1038/s41598-019-49409-1.
  54. Kohlmann, et al. Genetic testing. https://www.uptodate.com/contents/search. Accessed July 3, 2025.
  55. Craig TJ, et al. Improving detection of alpha-1 antitrypsin deficiency: Role of the allergist. The Journal of Allergy and Clinical Immunology: In Practice. 2023; doi:10.1016/j.jaip.2023.04.027.
  56. Bronchitis. National Heart, Lung, and Blood Institute. https://www.nhlbi.nih.gov/health/bronchitis. Accessed July 3, 2025.
  57. Oxygen therapy. COPD Foundation. https://www.copdfoundation.org/Learn-More/I-am-a-Person-with-COPD/Oxygen-Therapy.aspx. Accessed Aug. 27, 2025.