%0 Journal Article %A Manuel Barros Monge %A Rafael Silva %A Karen Czischke %A Fernando Saldías %A Juanita Pavié %A Mauricio Jalón %A María Guacolda Benavides %A Bernardo San Martín %A Ximena Cea %A Laura Mendoza %A Rosa Roldán %A Luis Soto %A Manuel De La Prida %A Alcídes Zambrano %A Jorge Villalobos %A Mónica Gutiérrez %A Mauricio Riquelme %A Mauricio Tapia %A Jorge Dreyse %T Prevalence of alpha-1-antitrypsin deficiency (A1AD) in patients with COPD %D 2021 %R 10.1183/13993003.congress-2021.PA3513 %J European Respiratory Journal %P PA3513 %V 58 %N suppl 65 %X A1AD is a rare inherited condition, present in 1 to 4% of COPD patients. The aim of this study was to describe the prevalence of A1AD in COPD subjects in Chile, since only isolated cases have been reported.We recruited subjects with COPD (postbronchodilator FEV1/FVC <70%, FEV1<80% of predicted value). Ethics committee approval and Informed consent from subjects were obtained.Alpha-1-antitrypsin (A1A) was measured in dried blood spot (DBS) samples by nephelometry (normal value ≥110 mg/dl) and genotyping done by Progenika (Spain), with DNA obtained from DBS. Amplification and hybridisation were done in 96 well plates. The test is based in PCR of genomic DNA and hybridisation is done with specific allele probes (xMAP, Luminex) allowing the identification of 14 alleles associated with A1AD. In absence of any of this variant, is reported as normal variant (M/M).This report includes 262 subjects (171 male/ 91 female), 68.2±6.8 years old). 246 (98%) were current or ex-smokers (45±24 pack years) and 25% have had significant exposure to biomass. FEV1 post bronchodilator was 1.3±0.6 L (48.1±19.1%), FVC 2.7±0.9 L (74.5±19.9%), and FEV1/FVC 47.4±11.5. They have mMRC 2.0±1.1, CAT 18.3±8.4 and COTE 1.6±2.7. 178 subjects (68%) had had at least one exacerbation in the previous year (mean 2.3 ± 1.3).In 44 subjects with A1AT levels <110 mg/dl, their genotyping showed 29 M/M (normal variant), 6 M/S, 4 M/Z 1 S/S and 1 M/Q0 mattawa. Amongst the 232 subjects with A1AT levels ≥110 mg/dl, we found 206 M/M, 13 M/S, 7 M/Z, 2 S/S and one each SZ, MF y MI.In conclusion, DA1A was present in 17% of COPD patients, although we found abnormal alleles associated with DA1A in 13.6%, many of them in subjects with normal values of A1A.FootnotesCite this article as: European Respiratory Journal 2021; 58: Suppl. 65, PA3513.This abstract was presented at the 2021 ERS International Congress, in session “Prediction of exacerbations in patients with COPD”.This is an ERS International Congress abstract. No full-text version is available. Further material to accompany this abstract may be available at www.ers-education.org (ERS member access only). %U