The prevalence of alpha-1 antitrypsin deficiency among patients found to have airflow obstruction

Franck F. Rahaghi, Robert A. Sandhaus, Charlie Strange, Douglas Kyle Hogarth, Edward Eden, James M. Stocks, Michael J. Krowka, James K. Stoller

Research output: Contribution to journalArticlepeer-review

34 Scopus citations


Introduction: Alpha-1 antitrypsin deficiency (AATD) is a genetic disease that may be manifested by chronic obstructive pulmonary disease. Despite professional society guidelines that recommend broad testing of at-risk individuals, fewer than 10 of affected individuals have been identified. The goals of this study were to estimate the frequency of abnormal AAT genotypes among patients found to have fixed airflow obstruction and to assess the feasibility of having Pulmonary Function Laboratory personnel administer the study. Methods: Nineteen medical centers in the United States participated in the study. Eligible patients (> GOLD II, FEV1/FVC ratio < 0.7, with post-bronchodilator FEV1<80% predicted) were offered testing for AATD by the Pulmonary Function Laboratory personnel at the time of pulmonary function testing. Results: A total of 3,457 patients were tested, of whom 3152 were eligible. Deficient patients (ZZ, SZ) constituted 0.63% of subjects, while 10.88% were carriers (MS, MZ). Neither demographic (except African-American race) nor post-bronchodilator pulmonary function variables (FEV1, FVC, FEV1/FVC ratio, TLC, and FEV1/FVC) allowed us to predict AAT heterozygote or deficiency status. Conclusions: The prevalence of AATD among patients undergoing pulmonary function tests with fixed airflow obstruction was 0.63%. Pulmonary Function Laboratory personnel effectively conducted the study.

Original languageEnglish (US)
Pages (from-to)352-358
Number of pages7
JournalCOPD: Journal of Chronic Obstructive Pulmonary Disease
Issue number4
StatePublished - Aug 2012


  • Alpha 1-Antitrypsin Deficiency
  • Chronic Obstructive Pulmonary Disease
  • Pulmonary Function Test
  • Respiratory Care
  • Spirometry

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine


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