Health related quality of life and disease severity in patients with alpha-1 antitrypsin deficiency

Study question: To describe health-related quality of life (HRQL) in indivi duals with alpha-1 antitrypsin (AAT) deficiency, examine the cross-sectiona l relationship between disease severity and HRQL, and explore changes in lu ng function and HRQL over time in a subset of these individuals. Material/M ethods: Forty-five adults with AAT deficiency and moderate to severe emphys ema completed the Chronic Respiratory Disease Questionnaire (CRQ), six-minu te walk distance (6-MWD) and pulmonary function tests (PFTs). Twenty of the 45 were followed for two additional years with repeated measurements of CR Q and PFTs. Results: The mean +/- SD age was 49 +/- 8 years. Initial CRQ su bscale 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 foun d 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 i n 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 betw een disease severity and HRQL in this population.