Pulmonary Rehabilitation in Alpha-1 Antitrypsin Deficiency Patients With Bronchiectasis: Clinical and Functional Characteristics of Patients From the Portuguese Earco Registry

Introduction: Alpha-1 antitrypsin deficiency (AATD) is a rare genetic disorder associated with early-onset respiratory disease, including bronchiectasis, which is linked to increased clinical severity. Pulmonary rehabilitation (PR) is a cornerstone non-pharmacological intervention in chronic respiratory disease, yet evidence in AATD patients with bronchiectasis remains limited. This study aimed to characterize and compare AATD patients with bronchiectasis enrolled and not enrolled in PR, assessing clinical and functional features, and to explore PR impact. Materials and Methods: We analysed 88 patients from the Portuguese prospective cohort of the EARCO Registry with AATD and chest computed tomography scan-confirmed bronchiectasis, divided into PR (n=24) and non-PR (n=64) groups. Two patients were re-evaluated post-PR. Results: PR patients were older (mean age 61.7 vs 59.8 years), more frequently male (58% vs 47%), less often professionally active (33% vs 44%), and more often smoking history (67% vs 41%). They presented lower mean serum AAT levels (33.9 vs 51.1 mg/dL) and higher augmentation therapy use (50% vs 30%). COPD (71% vs 38%), emphysema (75% vs 50%), and home respiratory support (long-term oxygen therapy 25% vs 8%; ambulatory oxygen 42% vs 9%; non-invasive ventilation 8% vs 2%) were more prevalent in the PR group. Functionally, PR patients showed lower FEV1, FVC, DLCO, and six-minute walking distance. Symptom burden was higher: dyspnea (88% vs 61%), cough (67% vs 34%), sputum (58% vs 22%), and higher mMRC, BODE/BODEX, and CAT scores (12.9 vs 8.6). Health-related quality of life was poorer (EQ-VAS 56 vs 69). Exacerbation rates were similar. In pre/post PR analysis (n=2), reductions in dyspnea (mMRC) and BODE index and increased physical activity were observed. Conclusions: In the Portuguese EARCO cohort, PR is prioritized for frailer AATD-bronchiectasis patients with severe clinical and functional impairment, while access remains limited for others. Further study is needed to clarify PR impact in this population.