Clinical phenotypes of Italian and Spanish patients with α1-antitrypsin deficiency

With the aim of providing better clinical characterisation of patients with alpha(1)-antitrypsin deficiency (AATD), we analysed the data of adult patients with severe AATD enrolled in the Spanish and Italian national registries. We assessed 745 subjects, 416 of whom were enrolled in the Spanish registry and 329 in the Italian registry. 57.2% were male and 64.9% were smokers or former smokers with a mean +/- SD age of 49.9 +/- 13.8 years. Most (81.2%) were index cases, mainly having the PI(star)ZZ genotype (73.4%), and the mean +/- SD diagnostic delay was 9.0 +/- 12.1 years. Patients with chronic bronchitis were younger, had better preserved lung function and lower tobacco consumption. Overlap patients (chronic obstructive pulmonary disease with asthma) were mainly females, more frequently never-smokers and received respiratory medications more often. 48% of emphysema, 27.5% of chronic bronchitis and 44.8% of overlap subjects were receiving augmentation therapy. Compared with PI(star)ZZ patients (n=547), the PI(star)SZ (n=124) subjects were older at diagnosis and had more preserved lung function, despite a higher mean smoking consumption. Early diagnosis of AATD is still an unmet need. Augmentation therapy is administered to similar proportions of patients with different clinical phenotypes. PI(star)ZZ patients in both registries had more severe respiratory disease than those with PI(star)SZ, despite lower smoking levels.