Improvement of walking capacity in patients with Alpha1-antitrypsin deficiency after augmentation therapy

<bold>Background:</bold> Alpha1-antitrypsin deficiency (AATD) is a rare genetic disease caused by mutations in the SERPINA1 gene, which codes for this protein. This deficiency mainly predisposes to the development of pulmonary and hepatic diseases. <bold>Objectives:</bold> The aim of this study was to investigate walking capacity and assess the degree of dyspnoea in patients with severe AATD followed at our center, before and after one year of augmentation therapy with human alpha1-proteinase inhibitor (alpha1-PI). <bold>Methods:</bold> Seven patients with severe AATD were recruited. All patients, before and during treatment with human alpha1-PI, underwent pulmonary function tests, Modified Medical Research Council (mMRC) questionnaire, and the COPD Assessment Test (CAT). <bold>Results:</bold> We found a statistically significant improvement (p = 0.0001) in meters walked on 6-minute walking test (6MWT) and a clinical improvement of meters walked by all patients after augmentation therapy. Additionally, CAT and mMRC values, demonstrated clinically significant improvement one year after therapy (p = 0.013 and p = 0.019, respectively). We also observed a trend of reduction in the number of exacerbations, although it was not statistically significant (p = 0.075). <bold>Conclusions:</bold> Augmentation therapy improve functional exercise capacity and dyspnoea in patients with severe AATD.