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Improving AATD care with early diagnosis and management

CE / CME

Improving AATD Care Through Early Diagnosis and Multidisciplinary Management: A Call to Action

Physician Assistants/Physician Associates: 1.00 AAPA Category 1 CME credit

Nurse Practitioners/Nurses: 1.00 Nursing contact hour

Physicians: maximum of 1.00 AMA PRA Category 1 Credit

Released: June 12, 2025

Expiration: June 11, 2026

Activity

Progress
1 2 3
Course Completed

References

  1. Patel D, McAllister SL, Teckman JH. Alpha-1 antitrypsin deficiency liver disease. Transl Gastroenterol Hepatol. 2021;6:23.
  2. Sapey E. Neutrophil modulation in alpha-1 antitrypsin deficiency. Chronic Obstr Pulm Dis. 2020;7:247-259.
  3. Brode SK, Ling SC, Chapman KR. Alpha-1 antitrypsin deficiency: a commonly overlooked cause of lung disease. CMAJ. 2012;184:1365-1371.
  4. Miravitlles M, Dirksen A, Ferrarotti I, et al. European Respiratory Society statement: diagnosis and treatment of pulmonary disease in α1-antitrypsin deficiency. Eur Respir J. 2017;50:1700610.
  5. Tanash HA, Piitulainen E. Liver disease in adults with severe alpha-1-antitrypsin deficiency. J Gastroenterol. 2019;54:541-548.
  6. https://www.rarediseaseadvisor.com/disease-info-pages/alpha-1-antitrypsin-deficiency-epidemiology-aatd/
  7. Seixas S, Marques PI. Known mutations at the cause of alpha-1 antitrypsin deficiency: an updated overview of SERPINA1 variation spectrum. Appl Clin Genet. 2021;14:173-194.
  8. Foil KE. Variants of SERPINA1 and the increasing complexity of testing for alpha-1 antitrypsin deficiency. Ther Adv Chronic Dis. 2021;12_suppl:20406223211015954.
  9. Strnad P, McElvaney NG, Lomas DA. Alpha1-antitrypsin deficiency. N Engl J Med. 2020;382:1443-1455.
  10. Blanco I, Bueno P, Diego I, Pérez-Holanda S, et al. Alpha-1 antitrypsin Pi*Z gene frequency and Pi*ZZ genotype numbers worldwide: an update. Int J Chron Obstruct Pulmon Dis. 2017;12:561-569.
  11. Fromme M, Schneider CV, Trautwein C, et al. Alpha-1 antitrypsin deficiency: A re-surfacing adult liver disorder. J Hepatol. 2022;76:946-958.
  12. European Association for the Study of the Liver. EASL Clinical Practice Guidelines on genetic cholestatic liver diseases. J Hepatol. 2024;81:303-325.
  13. Dasí F. Alpha-1 antitrypsin deficiency. Med Clin (Barc). 2024;162:336-342.
  14. Barjaktarevic I, Campos M. Management of lung disease in alpha-1 antitrypsin deficiency: what we do and what we do not know. Ther Adv Chronic Dis. 2021;12_suppl:20406223211010172.
  15. Bouchecareilh M. Alpha-1 antitrypsin deficiency-mediated liver toxicity: why do some patients do poorly? What do we know so far? Chronic Obstr Pulm Dis. 2020;7:172-181.
  16. Chiang DJ, McCullough AJ. The impact of obesity and metabolic syndrome on alcoholic liver disease. Clin Liver Dis. 2014;18:157-163.
  17. Rutledge SM, Asgharpour A. Smoking and liver disease. Gastroenterol Hepatol (N Y). 2020;16:617-625.
  18. Teckman JH, Buchanan P, Blomenkamp KS, et al. Biomarkers associated with future severe liver disease in children with alpha-1-antitrypsin deficiency. Gastro Hep Adv. 2024;3:842-850.
  19. Nakanishi T, Forgetta V, Handa T, et al. The undiagnosed disease burden associated with alpha-1 antitrypsin deficiency genotypes. Eur Respir J. 2020;56:2001441.
  20. Soriano JB, Lucas SJ, Jones R, et al. Trends of testing for and diagnosis of α1-antitrypsin deficiency in the UK: more testing is needed. Eur Respir J. 2018;52:1800360.
  21. Stoller JK, Sandhaus RA, Turino G, et al. Delay in diagnosis of alpha1-antitrypsin deficiency: a continuing problem. Chest. 2005;128:1989-1994.
  22. Shah RS, Alsuleiman B, Bena J, et al. Alpha-1 antitrypsin deficiency is under-recognized in individuals with cirrhosis undergoing liver transplantation. Eur J Gastroenterol Hepatol. 2021;33(1S Suppl 1):e233-e238.
  23. Meischl T, Schmid-Scherzer K, Vafai-Tabrizi F, et al. The impact of diagnostic delay on survival in alpha-1-antitrypsin deficiency: results from the Austrian Alpha-1 Lung Registry. Respir Res. 2023;24:34.
  24. Hiller AM, Piitulainen E, Tanash H. The clinical course of severe alpha-1-antitrypsin deficiency in patients identified by screening. Int J Chron Obstruct Pulmon Dis. 2022;17:43-52.
  25. Rahaghi FF, Miravitlles M. Long-term clinical outcomes following treatment with alpha 1-proteinase inhibitor for COPD associated with alpha-1 antitrypsin deficiency: a look at the evidence. Respir Res. 2017;18:105.
  26. Fromme M, Strnad P. Liver cancer in severe alpha-1 antitrypsin deficiency: who is at risk? Eur Respir J. 2022;60:2200718.
  27. Clark VC, Dhanasekaran R, Brantly M, et al. Liver test results do not identify liver disease in adults with α(1)-antitrypsin deficiency. Clin Gastroenterol Hepatol. 2012;10:1278-1283.
  28. Wu T, Hagiwara M, Gnass E, et al. Liver disease progression in patients with alpha-1 antitrypsin deficiency and protease inhibitor ZZ genotype with or without lung disease. Aliment Pharmacol Ther. 2023;58:1075-1085.
  29. Hamesch K, Mandorfer M, Pereira VM, et al. Liver fibrosis and metabolic alterations in adults with alpha-1-antitrypsin deficiency caused by the Pi*ZZ mutation. Gastroenterology. 2019;157:705-719.e18.
  30. Kouroumalis E, Voumvouraki A, Augoustaki A, et al. Autophagy in liver diseases. World J Hepatol. 2021;13:6-65.
  31. American Thoracic Society; European Respiratory Society. American Thoracic Society/European Respiratory Society statement: standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency. Am J Respir Crit Care Med. 2003;168:818-900.
  32. Sandhaus RA, Turino G, Brantly ML, et al. The diagnosis and management of alpha-1 antitrypsin deficiency in the adult. Chronic Obstr Pulm Dis. 2016;3:668-682.
  33. Rinella ME, Neuschwander-Tetri BA, Siddiqui MS, et al. AASLD Practice Guidance on the clinical assessment and management of nonalcoholic fatty liver disease. Hepatology. 2023;77:1797-1835.
  34. Zamora MR, Ataya A. Lung and liver transplantation in patients with alpha-1 antitrypsin deficiency. Ther Adv Chronic Dis. 2021;12_suppl:20406223211002988.
  35. Clark VC, Marek G, Liu C, et al. Clinical and histologic features of adults with alpha-1 antitrypsin deficiency in a non-cirrhotic cohort. J Hepatol. 2018;69:1357-1364.
  36. Huang DQ, Chan KE, Tan C, et al. Meta-analysis: Prevalence of significant or advanced fibrosis in adults with alpha-1-antitrypsin deficiency. Aliment Pharmacol Ther. 2023;58:152-158.
  37. Kim RG, Loomba R. Editorial: non-invasive assessment of hepatic fibrosis in alpha-1 antitrypsin deficiency using magnetic resonance elastography – authors' reply. Aliment Pharmacol Ther. 2016;44:645-646.
  38. Loomba R, Clark G, Teckman J, et al. Review article: new developments in biomarkers and clinical drug developments in alpha-1-antitrypsin deficiency-related liver disease. Aliment Pharmacol Ther. 2024;59:1183-1195.
  39. Fromme M, Payancé A, Mandorfer M, et al. Longitudinal evaluation of individuals with severe alpha-1 antitrypsin deficiency (Pi∗ZZ genotype). Gastroenterology. 2025;168:367-381.
  40. Clark VC, Price MA, Russo J, et al. Diagnosis and monitoring pathways using non-invasive tests in patients with alpha-1 antitrypsin deficiency-associated liver disease: results from an expert Delphi panel. United European Gastroenterol J. 2025;[Epub ahead of print].
  41. Ruiz M, Lacaille F, Schrader C, et al. Pediatric and adult liver disease in alpha-1 antitrypsin deficiency. Semin Liver Dis. 2023;43:258-266.
  42. Rademacher L, Fromme M, Strnad P. Cleaning up alpha-1 antitrypsin deficiency related liver disease. Curr Opin Gastroenterol. 2023;39:163-168.
  43. https://www.rarediseaseadvisor.com/news/first-patient-dosed-phase-3-study-fazirsiran-aatd-ld/
  44. Strnad P, Mandorfer M, Choudhury G, et al. Fazirsiran for liver disease associated with alpha1-antitrypsin deficiency. N Engl J Med. 2022;387:514-524.
  45. Clark VC, Strange C, Strnad P, et al. Fazirsiran for adults with alpha-1 antitrypsin deficiency liver disease: a phase 2 placebo controlled trial (SEQUOIA). Gastroenterology. 2024;167:1008-1018.e5.
  46. Karatas E, Bouchecareilh M. Alpha 1-antitrypsin deficiency: a disorder of proteostasis-mediated protein folding and trafficking pathways. Int J Mol Sci. 2020;21:1493.
  47. Walsh C, Jin S. Induced pluripotent stem cells and CRISPR-Cas9 innovations for treating alpha-1 antitrypsin deficiency and glycogen storage diseases. Cells. 2024;13:1052.