title: Health related quality of life and disease severity in patients with alpha-1 antitrypsin deficiency.
abstract: OBJECTIVE
  To describe health-related quality of life (HRQL) in individuals with alpha-1 antitrypsin (AAT) deficiency, examine the cross-sectional relationship between disease severity and HRQL, and explore changes in lung function and HRQL over time in a subset of these individuals.
  
  
  METHODS
  Forty-five adults with AAT deficiency and moderate to severe emphysema completed the Chronic Respiratory Disease Questionnaire (CRQ), six-minute walk distance (6-MWD) and pulmonary function tests (PFTs). Twenty of the 45 were followed for two additional years with repeated measurements of CRQ and PFTs.
  
  
  RESULTS
  The mean +/- SD age was 49 +/- 8 years. Initial CRQ subscale scores were: dyspnea 17.5 +/- 4.3; fatigue 17.0 +/- 5.46; emotional function 33.1 +/- 8.67; and mastery 21.7 +/- 4.65. No relationship was found between percent predicted forced expiratory volume in one second (FEV1%) and CRQ score; 6 MWD and fatigue correlated significantly (r = 0.32, p < 0.05). Repeated PFT and CRQ measurements in 20 subjects showed statistically significant declines in FEV1 and slow vital capacity (SVC), but no change in CRQ scores.
  
  
  CONCLUSIONS
  Results suggest persons with AAT deficiency face challenges to HRQL that are similar to older adults with chronic pulmonary disease. Further research is needed on the nature of the relationship between disease severity and HRQL in this population.
authors.affiliation: National Institutes of Health, Clinical Center Nursing Department, Bethesda MD 20892-1506, USA. aknebel@nih.gov
authors.forename: A R
authors.initials: AR
authors.lastname: Knebel
authors.forename: N K
authors.initials: NK
authors.lastname: Leidy
authors.forename: S
authors.initials: S
authors.lastname: Sherman
mesh_terms: D000328:Adult; D000704:Analysis of Variance; D003430:Cross-Sectional Studies; D005260:Female; D005500:Follow-Up Studies; D006304:Health Status; D006801:Humans; D008297:Male; D008875:Middle Aged; D011788:Quality of Life; D012129:Respiratory Function Tests; D014481:United States; D019896:alpha 1-Antitrypsin Deficiency / Q000523:psychology / Q000534:rehabilitation*