title: Respiratory symptoms and lung function in 30-year-old individuals with alpha-1-antitrypsin deficiency.
abstract: BACKGROUND
  Individuals with severe alpha-1-antitrypsin (AAT) deficiency have a well-known risk of developing emphysema but it is not known at which age the first symptoms occur and lung function declines. The aim of this study was to examine the prevalence of smoking, respiratory symptoms and lung function at the age of 30 in AAT-deficient individuals (PiZ and PiSZ) identified by neonatal screening.
  
  
  METHODS
  One hundred and seven PiZ, 45 PiSZ and 197 control subjects (PiMM) filled in a questionnaire regarding smoking habits and symptoms. Ninety PiZ, 40 PiSZ and 84 control subjects underwent spirometry including FEV(1) and FVC.
  
  
  RESULTS
  Twenty-one percent of PiZ, 23% of PiSZ and 34% of PiMM subjects had smoked at some time (p<0.05). Sixty-five percent of PiZ, 55% of PiSZ and 35% of PiMM ever-smokers reported shortness of breath on exertion (p<0.05 PiZ vs PiMM). The mean FEV(1) was 101% predicted (95% CI 98-104) in PiZ, 101% predicted (95% CI 97-106) in PiSZ, and 96% predicted (95% 93-98) in PiMM individuals (p<0.05). There was no difference in mean FEV(1) when comparing ever- and neversmokers in the different Pi groups separately.
  
  
  CONCLUSIONS
  At the age of 30, the AAT-deficient individuals in this cohort report more symptoms than the control subjects. Smoking is less common in the cohort compared to controls. Their lung function is normal.
authors.affiliation: Department of Respiratory Medicine, Lund University, University Hospital, Malmö, Entrance 35, SE-205 02 Malmö, Sweden. elisabeth.bernspang@med.lu.se
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Bernspång
authors.forename: Tomas
authors.initials: T
authors.lastname: Sveger
authors.forename: Eeva
authors.initials: E
authors.lastname: Piitulainen
mesh_terms: D000328:Adult; D015331:Cohort Studies; D005260:Female; D005541:Forced Expiratory Volume; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening / Q000379:methods; D010352:Patient Dropouts; D029424:Pulmonary Disease, Chronic Obstructive / Q000175:diagnosis / Q000209:etiology* / Q000503:physiopathology; D012907:Smoking / Q000009:adverse effects; D013147:Spirometry; D014797:Vital Capacity; D019896:alpha 1-Antitrypsin Deficiency / Q000150:complications* / Q000175:diagnosis / Q000503:physiopathology