title: Clinical course and prognosis of never-smokers with severe alpha-1-antitrypsin deficiency (PiZZ).
abstract: BACKGROUND
  Previous studies of non-smoking individuals with severe alpha(1)-antitrypsin deficiency (PiZZ) have been sparse and included only a limited number of individuals, mostly identified by respiratory symptoms. The aim of this study was to estimate the prognosis of non-smoking PiZZ individuals and to analyse the most common causes of death by including a large number of individuals who had been identified by other means than respiratory symptoms.
  
  
  METHODS
  The study included 568 non-smoking PiZZ subjects who were selected from the Swedish National AAT Deficiency Registry and followed up from 1991 to September 2007. Of these, 156 (27%) were identified by respiratory symptoms (respiratory cases) and 412 were identified by extrapulmonary symptoms or screening (non-respiratory cases).
  
  
  RESULTS
  93 subjects (16%) died during the follow-up period. The specific standardised mortality rate (SMR) for the whole study population was 2.32 (95% CI 1.87 to 2.83) with no significant difference between men and women. The SMR was 2.55 (95% CI 1.91 to 2.83) for the respiratory cases and 2.07 (95% CI 1.49 to 2.81) for the non-respiratory cases. Further calculation of SMR for subgroups in the non-respiratory cases showed that the SMR was 0.70 (95% CI 0.14 to 2.04) for individuals identified by family/population screening. Emphysema and liver cirrhosis were the most common causes of death (45% and 28%, respectively). Malignant transformation was found in 38% of the cases with cirrhosis.
  
  
  CONCLUSIONS
  Non-smoking PiZZ individuals identified by screening do not have an increased mortality risk compared with the Swedish general population.
authors.affiliation: Department of Respiratory Medicine, Malmö University Hospital, Entrance 35, S-205 02, Malmö, Sweden. hanan.tanash@med.lu.se
authors.forename: H A
authors.initials: HA
authors.lastname: Tanash
authors.forename: P M
authors.initials: PM
authors.lastname: Nilsson
authors.forename: J-A
authors.initials: JA
authors.lastname: Nilsson
authors.forename: E
authors.initials: E
authors.lastname: Piitulainen
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002423:Cause of Death; D005260:Female; D005541:Forced Expiratory Volume / Q000502:physiology; D006801:Humans; D008107:Liver Diseases / Q000150:complications / Q000401:mortality / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D011379:Prognosis; D012140:Respiratory Tract Diseases / Q000150:complications / Q000401:mortality / Q000503:physiopathology; D016019:Survival Analysis; D013548:Sweden / Q000453:epidemiology; D014797:Vital Capacity / Q000502:physiology; D055815:Young Adult; D019896:alpha 1-Antitrypsin Deficiency / Q000150:complications / Q000401:mortality* / Q000503:physiopathology