Deterioration of quality of life is associated with the exacerbation frequency in individuals with alpha-1-antitrypsin deficiency – analysis from the German Registry

Abstract

BackgroundAlpha-1-antitrypsin deficiency (AATD) is a rare hereditary disease that is associated with a higher risk to develop chronic obstructive pulmonary disease and liver cirrhosis. Previous cross-sectional studies on AATD individuals have shown a relationship between worse St George’s Respiratory Questionnaire (SGRQ) scores and elevated exacerbation rate or high cigarette consumption. There is a lack of longitudinal data on the relationship between the exacerbation rate and worsening of SGRQ during disease. The aim of this study was to provide not only cross-sectional data but also information about the deterioration in quality of life over a follow-up period up to 7 years (median follow-up period of 3.33 years).MethodsWe investigated questionnaire-based data of the German AATD registry concerning the relationship between SGRQ and exacerbation frequency, smoking history, forced expiratory volume in 1 second (FEV1) and carbon monoxide diffusion capacity (DLCO) first in cross-sectional analysis and later in longitudinal analysis.ResultsEight hundred sixty-eight individuals with protease inhibitor ZZ (PiZZ) genotype with an average age of 52.6±12.8 years had an SGRQ score of 45.7±20.6. SGRQ significantly correlated with the exacerbation frequency within the last 2 years (r=0.464; P<0.001), smoking history (r=0.233; P<0.001), FEV1 (r=−0.436; P<0.001), DLCO (r=−0.333; P<0.001), and patients’ age (r=0.292; P<0.001). Individuals with occupational dust exposure had significantly worse quality of life (P<0.001). Mean annual deterioration of SGRQ in all patients with available follow-up data (n=286) was 1.21±4.45 points per year. Univariate and multivariate analysis showed a significant relationship between worsening of SGRQ/year and exacerbation frequency in the follow-up period (r=0.144; P=0.015).ConclusionWorsening of SGRQ is associated with the exacerbation frequency in individuals with PiZZ AATD.

Health status decline in α-1 antitrypsin deficiency: a feasible outcome for disease modifying therapies?

“…The difference likely reflects a combination of the centralisation of patient care and the degree of monitoring carried out at our centre as well as potential improvements in patient care over the intervening 14 years. More recently a study from Germany [ 26 ] also documented a slow decline in SGRQ in AATD (+ 1.2 units for total score) which weakly reflected annual exacerbation rates [ 26 ]. However, that data was self-reported and included unquantified patients with the SZ phenotype and a significant proportion on augmentation therapy, which may have influenced the results.…”

Disease burden associated with alpha-1 antitrypsin deficiency: systematic and structured literature reviews

“…Our review suggests that patients with AATD who have frequent exacerbations (⩾3 per year) or chronic sputum expectoration have a poorer QoL than patients without [74], and that SGRQ scores may be significantly correlated with both exacerbations and dyspnoea [76]. Exacerbations are often associated with long-term sequelae including significant, permanent loss of lung function [26,129,130]. However, exacerbations are random events that are driven by infections and outcomes can vary substantially.…”

Influencing factors of good quality of life among chronic obstructive pulmonary disease patients living in Zhejiang Province, China

“…Some studies showed that patients with frequent exacerbations had a significantly lower QOL than patients with less frequent exacerbations 63 . Bernhard et al 64 reported that changes in HRQOL were more dependent on the frequency of exacerbation than on FEV1 and DLCO decline. Hospitalization also increased the financial burden and reduced QOL 65 .…”