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Chronic Obstr Pulm Dis. 2016 Jun 6;3(3):668-682. doi: 10.15326/jcopdf.3.3.2015.0182.

The Diagnosis and Management of Alpha-1 Antitrypsin Deficiency in the Adult.

Author information

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.

KEYWORDS:

alpha-1 antitrypsin; alpha-1 antitrypsin deficiency; chronic obstructive lung disease; copd; emphysema; liver disease

Conflict of interest statement

The work of this writing committee was supported by the Alpha-1 Foundation through payment of travel and meeting expenses and payment of library searching and printing fees. No other assistance was provided. Specifically, there was not honoraria paid and there was not writing assistance of any sort provided. Ms. Knight and Drs. Turino, Brantly, and Goodman have nothing to disclose. Dr. Sandhaus reports grants from CSL Behring. He is employed part-time by the Alpha-1 Foundation and AlphaNet, 2 not-for-profit entities that support research and health management in alpha-1 antitrypsin deficiency and receive part of their funding from pharmaceutical industry sources. Dr. Sandhaus serves on the Medical and Scientific Advisory Committee of the COPD Foundation. Dr. Campos reports grants from Grifols and CSL Behring. Dr. Cross reports personal fees from CSL Behring and Baxter. Dr. Hogarth reports personal fees from Baxter, CSL Behring, and Grifols. Dr. Stocks reports grants to the University of Texas from Kamada, Grifols, and Talecris. Dr. Stoller has served as a scientific consultant to Grifols, CSL Behring, Baxalta, and Kamada regarding alpha-1 antitrypsin deficiency and serves on the Board of Directors of the Alpha-1 Foundation and on the Medical and Scientific Advisory Committees of the Alpha-1 Foundation and the COPD Foundation. Dr. Strange reports personal fees and stock options from Abeona, grants from Baxalta, grants and personal fees from CSL Behring, grants and personal fees from Grifols, and grants from Alpha-1 Foundation. Dr. Teckman reports he is a paid consultant for Isis Pharmaceuticals, Arrowhead Research, Alnylam Inc., Editas Inc., Proteostasis Inc., Genkyotix, Grifols, Intellia, Retrophin, RxCelerate, Velfene, and Vertex. He has received grants from the National Institutes of Health and the Alpha-1 Foundation.

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