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Can Fam Physician
Vol. 56, No. 1, January 2010, pp.19 - 24
Copyright © 2010 by The College of Family Physicians of Canada
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Clinical Review

{alpha}1-Antitrypsin deficiency

Forgotten etiology

Alan Kaplan, MD CCFP(EM) FCFP
Family physician in Richmond Hill, Ont, Chair of the Family Physician Airways Group of Canada, a board member for the International Primary Care Respiratory Group (IPCRG), President of IPCRG 5th World Respiratory Conference, and a member of the Health Canada Section on Allergy and Respiratory Therapeutics and of the Public Health Agency of Canada Respiratory Surveillance Committee.

Lidia Cosentino, PhD
Scientific Development Manager for Talecris Biotherapeutics in Mississauga, Ont.

Correspondence: Dr Alan Kaplan, 17 Bedford Park Ave, Richmond Hill, ON L4C 2N9; telephone 905 883-1100; fax 905 884-1195; e-mail for4kids{at}gmail.com

OBJECTIVE To provide a review of {alpha}1-antitrypsin deficiency (AATD), {alpha}1-antitrypsin (AAT) augmentation, and the recommendations for timely recognition and treatment.

SOURCES OF INFORMATION Published guidelines and the medical literature about AATD and AAT augmentation were reviewed. The information presented is based on available published literature obtained by searching PubMed, the Cochrane Library databases, and the reference lists of relevant articles. Searches were limited to English-language articles published between 1990 and 2009.

MAIN MESSAGE {alpha}1-Antitrypsin deficiency, a genetic disorder characterized by low serum levels of AAT, predisposes affected patients to development of early-onset pulmonary disease (most commonly emphysema and chronic obstructive pulmonary disease) and occasionally even life-threatening liver disease. Despite being one of the most common inherited conditions (affecting about 1 in 2000 to 5000 people), AATD is underrecognized. This is unfortunate; although there is no cure for AATD, prompt diagnosis can help impede loss of lung function. Specific treatment of this deficiency with augmentation therapy is effective.

CONCLUSION {alpha}1-Antitrypsin deficiency is a common genetic condition that can be involved in premature lung and liver disease. Consider the diagnosis to allow earlier institution of AAT augmentation therapy to slow the progression of premature lung disease in affected patients.






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