Robert A Sandhaus1, Gerard Turino2, Mark L Brantly3, Michael Campos4, Carroll E Cross5, Kenneth Goodman6, D Kyle Hogarth7, Shandra L Knight8, James M Stocks9, James K Stoller10, Charlie Strange11, Jeffrey Teckman12. 1. Division of Pulmonary, Critical Care and Sleep Medicine, National Jewish Health, Denver, Colorado. 2. Pulmonary Division, Mt. Sinai Roosevelt Hospital, New York, New York. 3. Division of Pulmonary, Critical Care and Sleep Medicine, University of Florida, Gainesville. 4. Division of Pulmonary, Allergy, Critical Care and Sleep Medicine, University of Miami School of Medicine, Miami, Florida. 5. Division of Pulmonary and Critical Care Medicine, University of California Davis, Sacramento. 6. Institute for Bioethics and Health Policy, University of Miami School of Medicine, Miami, Florida. 7. Section of Pulmonary and Critical Care Medicine, Department of Medicine, University of Chicago, Chicago, Illinois. 8. Library and Knowledge Services, National Jewish Health, Denver, Colorado. 9. Department of Medicine, University of Texas Health Science Center at Tyler, Tyler. 10. Department of Pulmonary Medicine, Cleveland Clinic, Cleveland, Ohio. 11. Division of Pulmonary and Critical Care Medicine, Medical University of South Carolina, Charleston. 12. Division of Pediatric Gastroenterology and Hepatology, St. Louis University School of Medicine, St. Louis, Missouri.
Abstract
Background: The diagnosis and clinical management of adults with alpha-1 antitrypsin deficiency (AATD) have been the subject of ongoing debate, ever since the publication of the first American Thoracic Society guideline statement in 1989.1 In 2003, the "American Thoracic Society (ATS)/European Respiratory Society (ERS) Statement: Standards for the Diagnosis and Management of Individuals with Alpha-1 Antitrypsin Deficiency" made a series of evidence-based recommendations, including a strong recommendation for broad-based diagnostic testing of all symptomatic adults with chronic obstructive pulmonary disease (COPD).2 Even so, AATD remains widely under-recognized. To update the 2003 systematic review and clinical guidance, the Alpha-1 Foundation sponsored a committee of experts to examine all relevant, recent literature in order to provide concise recommendations for the diagnosis and management of individuals with AATD. Purpose: To provide recommendations for: (1) the performance and interpretation of diagnostic testing for AATD, and (2) the current management of adults with AATD and its associated medical conditions. Methods: A systematic review addressing the most pressing questions asked by clinicians (clinician-centric) was performed to identify citations related to AATD that were published since the 2003 comprehensive review, specifically evaluating publications between January 2002 and December 2014. Important, more recent publications were solicited from the writing committee members as well. The combined comprehensive literature reviews of the 2003 document and this current review comprise the evidence upon which the committee's conclusions and recommendations are based. Results: Recommendations for the diagnosis and management of AATD were formulated by the committee. Conclusions: The major recommendations continue to endorse and reinforce the importance of testing for AATD in all adults with symptomatic fixed airflow obstruction, whether clinically labeled as COPD or asthma. Individuals with unexplained bronchiectasis or liver disease also should be tested. Family testing of first-degree relatives is currently the most efficient detection technique. In general, individuals with AATD and emphysema, bronchiectasis, and/or liver disease should be managed according to usual guidelines for these clinical conditions. In countries where intravenous augmentation therapy with purified pooled human plasma-derived alpha-1 antitrypsin is available, recent evidence now provides strong support for its use in appropriate individuals with lung disease due to AATD.
Background: The diagnosis and clinical management of adults with alpha-1 antitrypsindeficiency (AATD) have been the subject of ongoing debate, ever since the publication of the first American Thoracic Society guideline statement in 1989.1 In 2003, the "American Thoracic Society (ATS)/European Respiratory Society (ERS) Statement: Standards for the Diagnosis and Management of Individuals with Alpha-1 AntitrypsinDeficiency" made a series of evidence-based recommendations, including a strong recommendation for broad-based diagnostic testing of all symptomatic adults with chronic obstructive pulmonary disease (COPD).2 Even so, AATD remains widely under-recognized. To update the 2003 systematic review and clinical guidance, the Alpha-1 Foundation sponsored a committee of experts to examine all relevant, recent literature in order to provide concise recommendations for the diagnosis and management of individuals with AATD. Purpose: To provide recommendations for: (1) the performance and interpretation of diagnostic testing for AATD, and (2) the current management of adults with AATD and its associated medical conditions. Methods: A systematic review addressing the most pressing questions asked by clinicians (clinician-centric) was performed to identify citations related to AATD that were published since the 2003 comprehensive review, specifically evaluating publications between January 2002 and December 2014. Important, more recent publications were solicited from the writing committee members as well. The combined comprehensive literature reviews of the 2003 document and this current review comprise the evidence upon which the committee's conclusions and recommendations are based. Results: Recommendations for the diagnosis and management of AATD were formulated by the committee. Conclusions: The major recommendations continue to endorse and reinforce the importance of testing for AATD in all adults with symptomatic fixed airflow obstruction, whether clinically labeled as COPD or asthma. Individuals with unexplained bronchiectasis or liver disease also should be tested. Family testing of first-degree relatives is currently the most efficient detection technique. In general, individuals with AATD and emphysema, bronchiectasis, and/or liver disease should be managed according to usual guidelines for these clinical conditions. In countries where intravenous augmentation therapy with purified pooled human plasma-derived alpha-1 antitrypsin is available, recent evidence now provides strong support for its use in appropriate individuals with lung disease due to AATD.
Authors: Roger D Yusen; Leah B Edwards; Anna Y Kucheryavaya; Christian Benden; Anne I Dipchand; Samuel B Goldfarb; Bronwyn J Levvey; Lars H Lund; Bruno Meiser; Joseph W Rossano; Josef Stehlik Journal: J Heart Lung Transplant Date: 2015-09-03 Impact factor: 10.247
Authors: Michael A Campos; Friedrich Kueppers; James M Stocks; Charlie Strange; Junliang Chen; Rhonda Griffin; Laurene Wang-Smith; Mark L Brantly Journal: COPD Date: 2013-07-17 Impact factor: 2.409
Authors: David R Nelson; Jeffrey Teckman; Adrian M Di Bisceglie; David A Brenner Journal: Clin Gastroenterol Hepatol Date: 2011-12-23 Impact factor: 11.382
Authors: Franck F Rahaghi; Robert A Sandhaus; Mark L Brantly; Farshid Rouhani; Michael A Campos; Charlie Strange; Douglas Kyle Hogarth; Edward Eden; James M Stocks; Michael J Krowka; James K Stoller Journal: COPD Date: 2012-04-16 Impact factor: 2.409
Authors: James K Stoller; Joseph Tomashefski; Ronald G Crystal; Alejandro Arroliga; Charlie Strange; Dermot N Killian; Mark D Schluchter; Herbert P Wiedemann Journal: Chest Date: 2005-04 Impact factor: 9.410
Authors: Matthew J Carpenter; Charlie Strange; Yonge Jones; Marguerite R Dickson; Cindy Carter; M Allison Moseley; Gregory E Gilbert Journal: Ann Behav Med Date: 2007-02
Authors: David G Parr; Peter G Guest; John H Reynolds; Lee J Dowson; Robert A Stockley Journal: Am J Respir Crit Care Med Date: 2007-09-13 Impact factor: 21.405
Authors: Srinu Tumpara; Beatriz Martinez-Delgado; Gema Gomez-Mariano; Bin Liu; David S DeLuca; Elena Korenbaum; Danny Jonigk; Frank Jugert; Florian M Wurm; Maria J Wurm; Tobias Welte; Sabina Janciauskiene Journal: Front Pharmacol Date: 2020-07-03 Impact factor: 5.810
Authors: Philip M Boone; Rachel M Scott; Stefan J Marciniak; Elizabeth P Henske; Benjamin A Raby Journal: Am J Respir Crit Care Med Date: 2019-06-01 Impact factor: 21.405
Authors: Alessandro N Franciosi; Brian D Hobbs; Oliver J McElvaney; Kevin Molloy; Craig Hersh; Louise Clarke; Cedric Gunaratnam; Edwin K Silverman; Tomás P Carroll; Noel G McElvaney Journal: Am J Respir Crit Care Med Date: 2020-07-01 Impact factor: 21.405