Abstract Rationale Alpha-1 antitrypsin deficiency (AATD) is an inherited disorder characterized by an increased susceptibility to several diseases. Emphysema and COPD are the most common pulmonary manifestations of AATD, but recent data suggest a strong predisposition toward the development of bronchiectasis even without accompanying emphysema or significant smoking history. Methods This multi-institutional retrospective study included patients with severe Pi*ZZ AATD from two local Alpha-1 registries. Data from medical records encompassed demographic, clinical, and imaging parameters, including lung function, AAT levels, exacerbation history, and relevant treatments. All chest CT scans were independently re-evaluated by two experienced chest radiologists. Data were analysed using t test and Mann-Whitey U test for continuous data and Chi square and Fisher’s exact test for nominal data. Results We identified 96 subjects with AATD and available adequate CT imaging. Among these patients, bronchiectasis were identified in 42 (43. 8%) patients. Bronchiectasis as the sole imaging abnormality were present in 7 (16.7%) patients, whereas 35 (83.3%) exhibited concomitant emphysema. Patients with bronchiectasis were significantly older, had lower lung function, were more symptomatic, and more likely to have positive sputum cultures or receive antibiotics and oxygen therapy. After adjustment for age, sex, liver disease, and CRP, serum AAT levels were significantly lower in patients with bronchiectasis. No association was observed between bronchiectasis presence or its subtype and liver disease. Cylindrical changes predominated in the lower lobes (41.2%) while varicose were diffusely distributed (72.7%). Productive cough was more common in patients with varicose and cystic bronchiectasis, whereas those with cylindrical, compared to varicose bronchiectasis, had more COPD (88.2% vs. 45.5%, p 0.05) and lower % predicted FEV1 (59.5% vs. 81.8%, p 0.05). Conclusion Bronchiectasis are common in severe Pi*ZZ AATD, occurring both in patients with and without clinically overt lung disease. Cylindrical and varicose lower-lobe-predominant forms predominate, whereas cystic bronchiectasis may reflect more advanced disease. These findings underscore the importance of CT-based assessment in AATD and the need for AAT testing in patients with unexplained bronchiectasis, particularly in the light of novel therapeutic strategies targeting the treatment of bronchiectasis. This abstract is funded by: None
Omcikus et al. (Fri,) studied this question.