title: Health status and lung function in the Swedish alpha 1-antitrypsin deficient cohort, identified by neonatal screening, at the age of 37-40 years.
abstract: BACKGROUND
  Severe alpha 1-antitrypsin (AAT) deficiency (genotype PiZZ) is a well-known risk factor for COPD. A cohort of PiZZ and PiSZ individuals was identified by the Swedish national neonatal AAT screening program in 1972-1974 and followed up regularly since birth. Our aim was to study the lung function, respiratory symptoms and health status at the age of 38 years in comparison with a random sample of control subjects selected from the population registry.
  
  
  METHODS
  The study group included 120 PiZZ, 46 PiSZ and 164 control subjects (PiMM), who answered a questionnaire on smoking habits and symptoms and the Saint George Respiratory Questionnaire (SGRQ) on quality of life. A total of 89 PiZZ, 33 PiSZ and 92 PiMM subjects underwent spirometry.
  
  
  RESULTS
  Four percent of the PiZZ, 2% of the PiSZ and 12% of the control subjects were current smokers (P=0.008), and 17% of the PiZZ, 9% of the PiSZ and 21% of the control subjects had stopped smoking. The PiZZ current smokers had a significantly higher (ie, poorer) median activity score according to the SGRQ than the PiZZ never-smokers (P=0.032). The PiMM current smokers had significantly higher activity score (P<0.001), symptom score (P<0.001), and total score (P=0.001) according to the SGRQ than the PiMM never-smokers. The PiZZ current smokers had a significantly lower postbronchodilator forced expiratory volume in 1 second (FEV1)% of predicted value (P=0.019) and FEV1/forced vital capacity (FVC) ratio (P=0.032) than the PiZZ never-smokers. The proportion of subjects with a FEV1/FVC ratio of <0.70, indicating COPD, was significantly higher in the PiZZ current smokers than in the PiZZ never-smokers (P=0.001). Among the PiSZ and PiMM subjects, the differences in lung function between the smoking subgroups were insignificant.
  
  
  CONCLUSIONS
  PiZZ current smokers were found to have signs of COPD before 40 years of age. Smoking is less common among the AAT-deficient subjects identified by neonatal screening than among their peers in the general population.
authors.affiliation: Department of Respiratory Medicine and Allergology, Skåne University Hospital, Lund University, Malmö, Sweden.
authors.forename: Eeva
authors.initials: E
authors.lastname: Piitulainen
authors.affiliation: Department of Respiratory Medicine and Allergology, Skåne University Hospital, Lund University, Malmö, Sweden.
authors.forename: Behrouz
authors.initials: B
authors.lastname: Mostafavi
authors.affiliation: Department of Respiratory Medicine and Allergology, Skåne University Hospital, Lund University, Malmö, Sweden.
authors.forename: Hanan A
authors.initials: HA
authors.lastname: Tanash
mesh_terms: D000328:Adult; D001944:Breath Tests; D016022:Case-Control Studies; D005260:Female; D005541:Forced Expiratory Volume; D020022:Genetic Predisposition to Disease; D006304:Health Status; D006801:Humans; D007231:Infant, Newborn; D008168:Lung / Q000503:physiopathology*; D008297:Male; D009154:Mutation; D015997:Neonatal Screening; D010641:Phenotype; D011237:Predictive Value of Tests; D011379:Prognosis; D029424:Pulmonary Disease, Chronic Obstructive / Q000175:diagnosis* / Q000209:etiology / Q000503:physiopathology; D011788:Quality of Life; D012042:Registries; D012307:Risk Factors; D012907:Smoking / Q000009:adverse effects; D016540:Smoking Cessation; D000074606:Smoking Prevention; D013147:Spirometry; D011795:Surveys and Questionnaires; D013548:Sweden; D014797:Vital Capacity; D000515:alpha 1-Antitrypsin / Q000235:genetics*; D019896:alpha 1-Antitrypsin Deficiency / Q000150:complications / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics
chemical_list: C043392:SERPINA1 protein, human; D000515:alpha 1-Antitrypsin
keywords: COPD; alpha 1-antitrypsin deficiency; health status; lung function; screening; smoking