The Journal of Allergy and Clinical Immunology
Volume 121, Issue 4 , Pages 833-838, April 2008

Issues in the diagnosis of α1-antitrypsin deficiency

  • Gary Rachelefsky, MD

      Affiliations

    • Executive Care Center for Asthma, Allergy, and Respiratory Diseases, UCLA Medical Center, Los Angeles, Calif
    • Corresponding Author InformationReprint requests: Gary Rachelefsky, MD, Executive Care Center for Asthma, Allergy, and Respiratory Diseases, UCLA Medical Center, 200 UCLA Medical Plaza, Suite 140-17, Los Angeles, CA 90095.
    • ,
  • D. Kyle Hogarth, MD

      Affiliations

    • Department of Medicine, Section of Pulmonary and Critical Care, University of Chicago, Chicago, Ill

Received 30 September 2007; received in revised form 22 November 2007; accepted 28 December 2007. published online 29 February 2008.

α1-Antitrypsin deficiency is a relatively common genetic disease that is underrecognized and underdiagnosed. Early diagnosis in the asymptomatic patient helps modify lifestyle choices to reduce the risk of emphysema. In 2003, the American Thoracic Society and the European Respiratory Society issued guidelines to improve standards in diagnosing α1-antitrypsin deficiency. This review highlights key recommendations for diagnosis of α1-antitrypsin deficiency, including the different types of diagnostic tests recommended in the guidelines. Options for patient treatment will be discussed.

Key words: α1-Antitrypsin deficiency, augmentation therapy, genetic testing, diagnosis

Abbreviations used: A1-PI, α1-Proteinase inhibitor, AAT, α1-Antitrypsin, AATD, α1-Antitrypsin deficiency, ATS, American Thoracic Society, ERS, European Respiratory Society, COPD, Chronic obstructive pulmonary disease, IEF, Isoelectric focusing, LVRS, Lung volume reduction surgery, PI, Protease inhibitor

 

 Disclosure of potential conflict of interest: G. Rachelefsky has consulting arrangements with AstraZeneca, CSL Behring, Schering-Plough, Merck, Medpointe, Forest Labs, Teva, and Asubiopharm and is on the speakers' bureau for AstraZeneca, Schering-Plough, Merck, Teva, and Genentech. D. K. Hogarth is on the speakers' bureau for CSL Behring, Talecris, and Baxter; has received research support from CSL Behring and Baxter; and has served as an expert witness on α1-antitrypsin.

PII: S0091-6749(08)00125-5

doi:10.1016/j.jaci.2007.12.1183

The Journal of Allergy and Clinical Immunology
Volume 121, Issue 4 , Pages 833-838, April 2008

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