Abstract
BackgroundAlpha-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 AATD-related 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 resultsThe 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.ConclusionAATD is associated with a lower prevalence of cardiovascular disease, the underlying mechanisms need further investigation.
Highlights
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 chronic obstructive pulmonary disease (COPD) like lung disease
For the spirometric classification (GOLD 2009), patients showing a ratio of Forced expiratory volume in 1 s (FEV1)/Forced vital capacity (FVC) < 70% were allocated according their FEV1%pred and patients having a ratio of FEV1/FVC > 70% were classified as “at risk” for COPD or GOLD stage 0 [14] if they: (i) had a doctor’s diagnosis of chronic bronchitis, (ii) reported a severity of cough ≥3 points on the respective COPD Assessment Test (CAT) items and/or (iii) reported a severity of phlegm ≥3 points on the respective CAT item
The group of COPD subjects without AATD included 8 patients with self-reported AATD of genotype Pi MZ, 16 patients with self-reported AATD of unknown genotype but normal AAT serum level and no replacement treatment, and 2482 patients without AATD according to self-report and medication
Summary
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. Alpha-1-antitrypsin deficiency (AATD) is a rare inherited condition caused by mutations of the SERPINA1 gene and is a genetic risk factor for liver and lung disease [1, 2]. Comorbidities often complicate the clinical presentation of patients with COPD and comprise cardiovascular and cerebrovascular diseases, osteoporosis, depression, lung cancer, and diabetes [4]. Some studies reported that AATD patients without COPD have a lower risk for developing cardiovascular diseases as compared to PiMM individuals [9, 10], this issue remains controversial [11, 12]
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