Alpha-1 antitrypsin deficiency (AATD) is a rare genetic condition associated with pulmonary disease, for which national and international registries play a crucial role.
Methods: With the aim of providing a clinically better characterisation of AADT patients, we conducted an observational cross sectional study on adult patients affected by severe AATD enrolled in the Spanish and Italian national registries.
Results: We assessed 745 subjects, 416 enrolled in the Spanish and 329 in the Italian Registries with a mean age of 49.9 years (SD=13.8). The 57.2% of subjects were male and the 64.9% smokers or former smokers. The majority were index cases (81.2%), mostly with PI*ZZ genotype (73.4%), the mean diagnostic delay was 9 years (SD=12.1). Compared with PI*ZZ (n=547), PI*SZ (n=124) subjects had an older age at diagnosis and better preserved lung function despite a higher mean smoking consumption. Characteristics of PI*ZZ patients with chronic obstructive pulmonary disease (COPD)(n=412) were compared according to GOLD severity stages. Mean age was similar in GOLD I, III and IV, but subjects in GOLD II were older. In GOLD I women and non-index cases were prevailing. The rate of never smokers significantly decreased when severity of COPD increased. Augmentation therapy was administered to 19% of GOLD I, 48% of GOLD II, 59% of GOLD III and 51% of GOLD IV patients.
Conclusions: Early diagnosis of AATD is still an unmet need. PI*ZZ patients in both registries had more severe respiratory disease than PI*SZ, despite less smoking consumption. Augmentation therapy is provided to similar proportions of patients with all degrees of severity of airflow obstruction from GOLD II to IV.