RT Journal Article SR Electronic T1 Demographic and clinical characteristics of patients with α1-antitrypsin deficiency genotypes PI*ZZ and PI*SZ in the Spanish registry of EARCO JF ERJ Open Research JO erjor FD European Respiratory Society SP 00213-2022 DO 10.1183/23120541.00213-2022 VO 8 IS 3 A1 María Torres-Durán A1 José Luis López-Campos A1 Juan Luis Rodríguez-Hermosa A1 Cristina Esquinas A1 Cristina Martínez-González A1 José María Hernández-Pérez A1 Carlota Rodríguez A1 Ana Bustamante A1 Francisco Casas-Maldonado A1 Miriam Barrecheguren A1 Cruz González A1 Marc Miravitlles YR 2022 UL http://openres.ersjournals.com/content/8/3/00213-2022.abstract AB Background The Spanish registry of α1-antitrypsin deficiency (AATD) integrated in the European Alpha-1 Research Collaboration (EARCO) provides information about the characteristics of patients, in particular those with the PI*SZ genotype, which is frequent in Spain.Method Individuals with severe AATD defined as proteinase inhibitor (PI) genotypes PI*ZZ, PI*SZ and other rare deficient variants were included from February 1, 2020, to February 1, 2022. The analysis focused on a comparison of the characteristics of PI*ZZ and PI*SZ patients.Results 409 patients were included (53.8% men) with a mean±sd age of 53.5±15.9 years. Genotypes were PI*ZZ in 181 (44.7%), PI*SZ in 163 (40.2%), PI*SS in 29 (7.2%) and other in 32 (7.9%). 271 (67.4%) had lung disease: 175 chronic obstructive pulmonary disease (43.5%), 163 emphysema (40.5%) and 83 bronchiectasis (20.6%). Patients with the PI*SZ genotype were younger, more frequently non-index cases and had a lower frequency of respiratory diseases except asthma compared with PI*ZZ patients. Among patients with respiratory diseases, PI*SZ individuals were significantly older both at onset of symptoms and at diagnosis; only asthma was more frequent in PI*SZ than in PI*ZZ individuals. Twelve PI*SZ patients (15.4%) received augmentation therapy compared with 94 PI*ZZ patients (66.2%; p<0.001).Conclusions There is a high prevalence of PI*SZ in Spain. Patients with the PI*SZ genotype were older at symptom onset and diagnosis and had less severe lung disease compared with PI*ZZ patients. The prevalence of asthma was higher in PI*SZ, and up to 15% of PI*SZ patients received augmentation therapy.Patients with the PI*ZZ genotype have more severe pulmonary disease than those with the PI*SZ genotype. However, asthma is as frequent in PI*SZ as in PI*ZZ. https://bit.ly/3m10MNN