Background: Alpha-1-antitrypsin deficiency (AATD) is a rare inherited condition caused by mutations of the SERPINA1
gene that is associated with the development of a COPD like lung disease. The comorbidities in patients with AATDrelated lung diseases are not well defined. The aim of this study was to analyze the clinical phenotype of AATD
patients within the German COPD cohort study COSYCONET (“COPD and SYstemic consequences-COmorbidities
NETwork”) cohort focusing on the distribution of comorbidities.
Method and results: The data from 2645 COSYCONET patients, including 139 AATD patients (110 with and 29 without
augmentation therapy), were analyzed by descriptive statistics and regression analyses. We found significantly lower
prevalence of cardiovascular comorbidities in AATD patients as compared to non-AATD COPD patients. After correction
for age, pack years, body mass index, and sex, the differences were still significant for coronary artery disease (p = 0.002)
and the prevalence of peripheral artery disease as determined by an ankle-brachial-index <= 0.9 (p = 0.035). Also the
distribution of other comorbidities such as bronchiectasis differed between AATD and non-deficient COPD.
Conclusion: AATD is associated with a lower prevalence of cardiovascular disease, the underlying mechanisms need
further investigation