PT  - JOURNAL ARTICLE
AU  - María Torres-Durán
AU  - José Luis López-Campos
AU  - Juan Luis Rodríguez-Hermosa
AU  - Cristina Esquinas
AU  - Cristina Martínez-González
AU  - José María Hernández-Pérez
AU  - Carlota Rodríguez
AU  - Ana Bustamante
AU  - Francisco Casas-Maldonado
AU  - Miriam Barrecheguren
AU  - Cruz González
AU  - Marc Miravitlles
TI  - Demographic and clinical characteristics of patients with alpha-1 antitrypsin deficiency genotypes PI*ZZ and PI*SZ in the Spanish registry of EARCO
AID  - 10.1183/23120541.00213-2022
DP  - 2022 Jan 01
TA  - ERJ Open Research
PG  - 00213-2022
4099  - http://openres.ersjournals.com/content/early/2022/05/26/23120541.00213-2022.short
4100  - http://openres.ersjournals.com/content/early/2022/05/26/23120541.00213-2022.full
AB  - Background The Spanish registry of alpha-1 antitrypsin deficiency integrated in the European alpha-1 antitrypsin deficiency 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 1st, 2020, to February 1st, 2022. The analysis focuses on the comparison of the characteristics of Pi*ZZ and Pi*SZ participants.Results 409 individuals were included, 53.8% were men, mean age of 53.5 years (standard deviation (sd): 15.9). Genotypes were PI*ZZ in 181 (44.7%), PI*SZ in 163 (40.2%), PI*SS in 29 (7.2%) and others in 32 (7.9%). 271 (67.4%) had lung disease; 175 COPD (43.5%), 163 emphysema (40.5%) and 83 bronchiectasis (20.6%). Individuals 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. 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 subjects. Twelve (15.4%) PI*SZ patients received augmentation therapy compared with 94 (66.2%) with PI*ZZ (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. The prevalence of asthma was higher in PI*SZ, and up to 15% of PI*SZ patients received augmentation therapy.FootnotesThis manuscript has recently been accepted for publication in the ERJ Open Research. It is published here in its accepted form prior to copyediting and typesetting by our production team. After these production processes are complete and the authors have approved the resulting proofs, the article will move to the latest issue of the ERJOR online. Please open or download the PDF to view this article.Competing interests: María Torres-Durán has received speaker fees from Chiesi, CSL Behring, Grifols and Resmed and consulting fees from CSL Behring and Grifols. José Luis López-Campos has received honoraria during the last 3 years for lecturing, scientific advice, participation in clinical studies or writing for publications for (alphabetical order): AstraZeneca, Boehringer Ingelheim, Chiesi, CSL Behring, Esteve, Ferrer, Gebro, GlaxoSmithKline, Grifols, Menarini, Novartis, Rovi, and Teva. Juan Luis Rodriguez-Hermosa has received speaker fees from Zambon, Bial, Gebro Pharma, GlaxoSmithKline, Chiesi, Boehringer Ingelheim, CSL Behring and Grifols. José María Hernández-Pérez has received speaker fees from Grifols, CSL Behring, Astra-Zeneca, GSK, Bial laboratory, Teva laboratory, support for attending meetings from Grifols, CSL Behring, and consulting fees from CSL Behring. Francisco Casas-Maldonado has received speaker fees from AstraZeneca, Bial, Boehringer Ingelheim, Chiesi, Gebro Pharma, GlaxoSmithKline, Laboratorios Esteve, Laboratorios Ferrer, Menarini, Novartis, Rovi, TEVA, VERTEX, Zambon, CSL Behring and Grifols and consulting fees from AstraZeneca, Chiesi, GlaxoSmithKline, CSL Behring and Grifols. Miriam Barrecheguren has received speaker fees from Grifols, Menarini, CSL Behring, GSK, Boehringer Ingelheim and consulting fees from GSK, Novartis, CSL Behring and Boehringer Ingelheim. Ana Bustamante has received speaker fees from Boehringer Ingelheim, AstraZeneca, GSK, Novartis and Ferrer, and funding for travelling or attending meetings from CSL Behring, AstraZeneca and Chiesi. Cruz González has received speaker fees from, Menarini, GSK, Novartis, Boehringer Ingelheim and Chiesi. Carlota Rodriguez has received speaker fees from GSK, AstraZeneca, Grifols, Chiesi, Ferrer, Menarini and Boehringer Ingelheim, expert testimony for Chiesi, Support for attending meetings from FAES. Marc Miravitlles has received speaker fees from AstraZeneca, Boehringer Ingelheim, Chiesi, Cipla, Menarini, Rovi, Bial, Sandoz, Zambon, CSL Behring, Grifols and Novartis, consulting fees from AstraZeneca, Boehringer Ingelheim, Chiesi, GlaxoSmithKline, Bial, Gebro Pharma, Kamada, CSL Behring, Laboratorios Esteve, Ferrer, Mereo Biopharma, Verona Pharma, TEVA, Spin Therapeutics, pH Pharma, Novartis, Sanofi and Grifols and research grants from GlaxoSmithKline and Grifols. The remaining authors report no conflicts of interest.The authors have nothing to disclose.