PMID- 22506682 OWN - NLM STAT- MEDLINE DCOM- 20121227 LR - 20131103 IS - 1541-2563 (Electronic) IS - 1541-2563 (Linking) VI - 9 IP - 4 DP - 2012 Aug TI - The prevalence of alpha-1 antitrypsin deficiency among patients found to have airflow obstruction. PG - 352-8 LID - 10.3109/15412555.2012.669433 [doi] AB - 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, FEV(1)/FVC ratio < 0.7, with post-bronchodilator FEV(1)<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 (FEV(1), FVC, FEV(1)/FVC ratio, TLC, and FEV(1)/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. FAU - Rahaghi, Franck F AU - Rahaghi FF AD - Cleveland Clinic Florida, Pulmonary and Critical Care, Weston, Florida 33332, USA. rahaghf@ccf.org FAU - Sandhaus, Robert A AU - Sandhaus RA FAU - Brantly, Mark L AU - Brantly ML FAU - Rouhani, Farshid AU - Rouhani F FAU - Campos, Michael A AU - Campos MA FAU - Strange, Charlie AU - Strange C FAU - Hogarth, Douglas Kyle AU - Hogarth DK FAU - Eden, Edward AU - Eden E FAU - Stocks, James M AU - Stocks JM FAU - Krowka, Michael J AU - Krowka MJ FAU - Stoller, James K AU - Stoller JK LA - eng PT - Clinical Trial PT - Journal Article PT - Multicenter Study PT - Research Support, N.I.H., Extramural PT - Research Support, Non-U.S. Gov't DEP - 20120416 PL - England TA - COPD JT - COPD JID - 101211769 RN - 0 (Genetic Markers) RN - 0 (alpha 1-Antitrypsin) SB - IM EIN - COPD. 2013 Aug;10(4):555. Brantly, Mark L [added]; Rouhani, Farshid [added]; Campos, Michael A [added] MH - Aged MH - Feasibility Studies MH - Female MH - Genetic Markers MH - Genotype MH - Humans MH - Logistic Models MH - Male MH - Medical Laboratory Personnel MH - Middle Aged MH - Prevalence MH - Prospective Studies MH - Pulmonary Disease, Chronic Obstructive/diagnosis/*etiology MH - Respiratory Function Tests MH - Respiratory Therapy Department, Hospital MH - alpha 1-Antitrypsin/*genetics MH - alpha 1-Antitrypsin Deficiency/complications/*diagnosis/epidemiology/genetics EDAT- 2012/04/18 06:00 MHDA- 2012/12/28 06:00 CRDT- 2012/04/18 06:00 PHST- 2012/04/18 06:00 [entrez] PHST- 2012/04/18 06:00 [pubmed] PHST- 2012/12/28 06:00 [medline] AID - 10.3109/15412555.2012.669433 [doi] PST - ppublish SO - COPD. 2012 Aug;9(4):352-8. doi: 10.3109/15412555.2012.669433. Epub 2012 Apr 16.