title: The prevalence of alpha-1 antitrypsin deficiency among patients found to have airflow obstruction.
abstract: BACKGROUND
  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.
authors.affiliation: Cleveland Clinic Florida, Pulmonary and Critical Care, Weston, Florida 33332, USA. rahaghf@ccf.org
authors.forename: Franck F
authors.initials: FF
authors.lastname: Rahaghi
authors.forename: Robert A
authors.initials: RA
authors.lastname: Sandhaus
authors.forename: Mark L
authors.initials: ML
authors.lastname: Brantly
authors.forename: Farshid
authors.initials: F
authors.lastname: Rouhani
authors.forename: Michael A
authors.initials: MA
authors.lastname: Campos
authors.forename: Charlie
authors.initials: C
authors.lastname: Strange
authors.forename: Douglas Kyle
authors.initials: DK
authors.lastname: Hogarth
authors.forename: Edward
authors.initials: E
authors.lastname: Eden
authors.forename: James M
authors.initials: JM
authors.lastname: Stocks
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Krowka
authors.forename: James K
authors.initials: JK
authors.lastname: Stoller
mesh_terms: D000368:Aged; D005240:Feasibility Studies; D005260:Female; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D016015:Logistic Models; D008297:Male; D017056:Medical Laboratory Personnel; D008875:Middle Aged; D015995:Prevalence; D011446:Prospective Studies; D029424:Pulmonary Disease, Chronic Obstructive / Q000175:diagnosis / Q000209:etiology*; D012129:Respiratory Function Tests; D012139:Respiratory Therapy Department, Hospital; D000515:alpha 1-Antitrypsin / Q000235:genetics*; D019896:alpha 1-Antitrypsin Deficiency / Q000150:complications / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics
chemical_list: D005819:Genetic Markers; D000515:alpha 1-Antitrypsin