Stoller JK, Aboussouan LS. A review of a1-antitrypsin deficiency. Am J Respir Crit Care Med. 2012 Feb 1. 185(3):246-59. [QxMD MEDLINE Link].
Stoller JK, Brantly M. The challenge of detecting alpha-1 antitrypsin deficiency. COPD. 2013 Mar. 10 Suppl 1:26-34. [QxMD MEDLINE Link].
Stoller JK, Lacbawan FL, Aboussouan LS. Alpha-1 Antitrypsin Deficiency. 1993. [QxMD MEDLINE Link].
Marciniuk DD, Hernandez P, Balter M, Bourbeau J, Chapman KR, Ford GT, et al. Alpha-1 antitrypsin deficiency targeted testing and augmentation therapy: a Canadian Thoracic Society clinical practice guideline. Can Respir J. 2012 Mar-Apr. 19(2):109-16. [QxMD MEDLINE Link]. [Full Text].
Stoller JK. Alpha-1 antitrypsin deficiency: An underrecognized, treatable cause of COPD. Cleve Clin J Med. 2016 Jul. 83 (7):507-14. [QxMD MEDLINE Link].
Fairbanks KD, Tavill AS. Liver disease in alpha 1-antitrypsin deficiency: a review. Am J Gastroenterol. 2008 Aug. 103(8):2136-41; quiz 2142. [QxMD MEDLINE Link].
Petrache I, Fijalkowska I, Zhen L, Medler TR, Brown E, Cruz P, et al. A novel antiapoptotic role for alpha1-antitrypsin in the prevention of pulmonary emphysema. Am J Respir Crit Care Med. 2006 Jun 1. 173(11):1222-8. [QxMD MEDLINE Link].
Banauch GI, Brantly M, Izbicki G, et al. Accelerated spirometric decline in New York City firefighters with a1-antitrypsin deficiency. Chest. 2010 Nov. 138(5):1116-24. [QxMD MEDLINE Link]. [Full Text].
Greene DN, Elliott-Jelf MC, Straseski JA, Grenache DG. Facilitating the laboratory diagnosis of a1-antitrypsin deficiency. Am J Clin Pathol. 2013 Feb. 139(2):184-91. [QxMD MEDLINE Link].
Bornhorst JA, Greene DN, Ashwood ER, Grenache DG. a1-Antitrypsin phenotypes and associated serum protein concentrations in a large clinical population. Chest. 2013 Apr. 143(4):1000-8. [QxMD MEDLINE Link].
Stoller JK, Tomashefski J Jr, Crystal RG, Arroliga A, Strange C, Killian DN. Mortality in individuals with severe deficiency of alpha1-antitrypsin: findings from the National Heart, Lung, and Blood Institute Registry. Chest. 2005 Apr. 127(4):1196-204. [QxMD MEDLINE Link].
Campos MA, Wanner A, Zhang G, Sandhaus RA. Trends in the diagnosis of symptomatic patients with alpha1-antitrypsin deficiency between 1968 and 2003. Chest. 2005 Sep. 128(3):1179-86. [QxMD MEDLINE Link].
Barrecheguren M, Monteagudo M, Simonet P, Llor C, Rodriguez E, Ferrer J, et al. Diagnosis of alpha-1 antitrypsin deficiency: a population-based study. Int J Chron Obstruct Pulmon Dis. 2016. 11:999-1004. [QxMD MEDLINE Link].
Greulich T, Nell C, Herr C, Vogelmeier C, Kotke V, Wiedmann S, et al. Results from a large targeted screening program for alpha-1-antitrypsin deficiency: 2003 - 2015. Orphanet J Rare Dis. 2016 Jun 10. 11 (1):75. [QxMD MEDLINE Link].
Odin JA, Kesar V. Alpha-1 antitrypsin deficiency. Ahmad J, Friedman SL, Dancygier H. Mount Sinai expert guides: hepatology. 1st ed. John Willey and Sons; 2014. 17. [Full Text].
Campos MA, Lascano J. a1 Antitrypsin deficiency: current best practice in testing and augmentation therapy. Ther Adv Respir Dis. 2014 Jul 9. [QxMD MEDLINE Link].
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 Oct 1. 168(7):818-900. [QxMD MEDLINE Link].
Celli BR, Cote CG, Marin JM, Casanova C, Montes de Oca M, Mendez RA. The body-mass index, airflow obstruction, dyspnea, and exercise capacity index in chronic obstructive pulmonary disease. N Engl J Med. 2004 Mar 4. 350(10):1005-12. [QxMD MEDLINE Link].
Sandhaus RA, Turino G, Stocks J, Strange C, Trapnell BC, Silverman EK, et al. alpha1-Antitrypsin augmentation therapy for PI*MZ heterozygotes: a cautionary note. Chest. 2008 Oct. 134(4):831-4. [QxMD MEDLINE Link].
Tutic M, Bloch KE, Lardinois D, Brack T, Russi EW, Weder W. Long-term results after lung volume reduction surgery in patients with alpha1-antitrypsin deficiency. J Thorac Cardiovasc Surg. 2004 Sep. 128(3):408-13. [QxMD MEDLINE Link].
Orens JB, Estenne M, Arcasoy S, Conte JV, Corris P, Egan JJ. International guidelines for the selection of lung transplant candidates: 2006 update--a consensus report from the Pulmonary Scientific Council of the International Society for Heart and Lung Transplantation. J Heart Lung Transplant. 2006 Jul. 25(7):745-55. [QxMD MEDLINE Link].
Carey EJ, Iyer VN, Nelson DR, Nguyen JH, Krowka MJ. Outcomes for recipients of liver transplantation for alpha-1-antitrypsin deficiency–related cirrhosis. Liver Transpl. 2013 Dec. 19 (12):1370-6. [QxMD MEDLINE Link].

Media Gallery

Close-up chest radiograph of the right lower zone of a 39-year-old woman with alpha1-antitrypsin deficiency (AATD). Normal lung markings are absent in the costophrenic angle. Some lung markings are present in the pericardiac region, but even these are diminished.
CT scan of the right middle and right lower lobes in a 38-year-old patient with alpha1-antitrypsin deficiency (AATD). Entire middle lobe and much of the lower lobe are emphysematous; normal lung structures have been replaced by abnormal airspaces. Only the posterior portions of the right lower lobe maintain a normal architecture.
Graph outlines alpha1-antitrypsin levels and risk of lung disease for the 5 most common phenotypes of alpha1-antitrypsin deficiency (AATD). Dashed line at 11 mmol/L (80 mg/mL) represents the threshold level below which emphysema is common.
Breath sound assessment. Video courtesy of Therese Canares, MD, and Jonathan Valente, MD, Rhode Island Hospital, Brown University.

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Author

Dora E Izaguirre Anariba, MD, MPH Physician, Department of Medicine, Wyckoff Heights Medical Center

Dora E Izaguirre Anariba, MD, MPH is a member of the following medical societies: American College of Physicians, American Heart Association, American Medical Association, American Public Health Association, Colegio Medico de Honduras

Disclosure: Nothing to disclose.

Coauthor(s)

Jesus Lanza, MD Fellow in Pulmonary and Critical Care Medicine, Department of Medicine, Section of Pulmonary Medicine, Lenox Hill Hospital

Disclosure: Nothing to disclose.

Klaus-Dieter Lessnau, MD, FCCP Former Clinical Associate Professor of Medicine, New York University School of Medicine; Medical Director, Pulmonary Physiology Laboratory, Director of Research in Pulmonary Medicine, Department of Medicine, Section of Pulmonary Medicine, Lenox Hill Hospital

Klaus-Dieter Lessnau, MD, FCCP is a member of the following medical societies: American College of Chest Physicians, American College of Physicians, American Medical Association, American Thoracic Society, Society of Critical Care Medicine

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Chief Editor

John J Oppenheimer, MD Clinical Professor, Department of Medicine, Rutgers New Jersey Medical School; Director of Clinical Research, Pulmonary and Allergy Associates, PA

John J Oppenheimer, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American College of Allergy, Asthma and Immunology, New Jersey Allergy, Asthma and Immunology Society

Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: Amgen; GSK; Aquestive; Aimmune<br/>Clinical Adjudication/Data Safety Monitoring Board for AZ, GSK, Abbvie, Sanofi; Executive Editor for Annals of Allergy, Asthma & Immunology; Editor for Medscape; Reviewer for UpToDate; Honoraria from American Board of Allergy and Immunology.

Additional Contributors

Ryland P Byrd, Jr, MD Professor of Medicine, Division of Pulmonary Disease and Critical Care Medicine, James H Quillen College of Medicine, East Tennessee State University

Ryland P Byrd, Jr, MD is a member of the following medical societies: American College of Chest Physicians, American Thoracic Society

Disclosure: Nothing to disclose.

Acknowledgements

Paul Fairman, MD Director, Pulmonary Hypertension Service, Professor, Department of Internal Medicine, Division of Pulmonary and Critical Care Medicine, Virginia Commonwealth University

Paul Fairman, MD is a member of the following medical societies: American College of Chest Physicians, American College of Physicians, and American Thoracic Society

Disclosure: Nothing to disclose.

Sarah Catherine Lyman Hellewell, MD Consulting Staff, Lynchburg Pulmonary Associates

Sarah Catherine Lyman Hellewell is a member of the following medical societies: American College of Chest Physicians, American College of Physicians, American Medical Association, and American Thoracic Society

Disclosure: Nothing to disclose.

Rajiv Malhotra, DO Assistant Professor, Department of Internal Medicine, Division of Pulmonary and Critical Care Medicine, Section of Interventional Pulmonary Medicine, Virginia Commonwealth University Health System

Rajiv Malhotra, DO is a member of the following medical societies: American College of Chest Physicians, American College of Physicians, and American Osteopathic Association

Disclosure: Nothing to disclose.

Sections Alpha1-Antitrypsin (AAT) Deficiency
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