Health-related quality of life in emphysema due to alpha-1-antitrypsin deficiency

Alpha-1-antitrypsin deficiency (AATD) is an autosomic codominant inherited disorder associated to early onset development of emphysema, that results in significant impairment of health-related quality of life (HRQoL).The aim of this study was to assess the quality of life of patients with emphysema-related AATD compared with a group of patients with smoking COPD. Methods: Observational, cross-sectional study in patients with a severe alpha1-antitrypsin deficiency (phenotype PI*ZZ) and a control group of COPD. All patients completed the mMRC dyspnea scale, the COPD severity score (COPDSS) and the quality of life questionnaires EQ-5D, LCOPD and CAT. Results: A total of 35 PI*ZZ patients were included (mean age 56.5 yrs (SD=10.6)), 57.1% male and mean FEV1(%)= 48.7% (SD=17.9%), and 61 COPD (70.3 yrs (9.2)), 80.3% men and FEV1(%)= 47% (16.4%). Scores of the severity and HRQoL questionnaires were similar, with a tendency towards worse scores in PI*ZZ for the EQ-5D (VAS) 64.8 (20.2) vs 71.6 (17.1); p=0.08. Correlations of HRQoL scores and FEV1(% predicted) were significant in both groups for COPDSS and LCOPD, but not for CAT and EQ-5D index. Correlations were stronger for AATD patients: r= -0.570, p Conclusions: The relationship between severity of lung disease and HRQoL, both generic and specific, is stronger in emphysema associated with AATD compared with smokers COPD. The different impact of the disease may be related to the differential characteristics of AATD patients (younger age, lower smoking consumption and less comorbidities).