Comparing Patients with ZZ Versus SZ Alpha-1 Antitrypsin Deficiency: Findings from AlphaNet's Disease Management Program.

Abstract

Background: The aim of this study was to examine differences in demographic, health, and behavioral characteristics in individuals with ZZ and SZ genotypes of alpha-1 antitrypsin deficiency (AATD) within AlphaNet's Disease Management and Prevention Program (ADMAPP). Methods: Self-reported data from 3535 patients with AATD, including 3031 (85.7%) patients with ZZ, ZNull, and NullNull genotypes (referred to here as ZZ), and 504 (14.3%) with the SZ genotype were analyzed using t-tests, ANOVAs, and Chi-squared tests. Results: The average age of the cohort was 56.3±10.6 years. The majority of respondents were male (51.2%), white (98.2%) and married (65.2%). SZs reported having more frequent exacerbations (p<0.001) and hospitalizations (p=0.012) than ZZs. A higher proportion of SZs than ZZs had been diagnosed with high blood pressure, diabetes, congestive heart failure, and other comorbid conditions. SZs were more likely than ZZs to report "poor" health (p=0.005). Over a third (38.4%) of SZs do not exercise compared to 27.1% of ZZs (p<0.001). A greater proportion of SZs compared to ZZs view themselves as being overweight (p<0.001) or "out of shape" (p=0.001). A higher proportion of SZs than ZZs reported any history of smoking and current smoking (p<0.001). Conclusions: In patients with AATD and lung disease participating in a disease management program, a higher proportion of SZs than ZZs report exacerbations, comorbidities, and overall poor health, as well as unhealthy behaviors such as lack of exercise and current smoking. Future work should consider the extent to which genotype-specific health promotion interventions would be useful.