TY - JOUR T1 - Prevalence of mutations in the alpha 1 antitrypsin gene in patients with pulmonary emphysema JF - European Respiratory Journal JO - Eur Respir J DO - 10.1183/13993003.congress-2019.PA4355 VL - 54 IS - suppl 63 SP - PA4355 AU - Eduardo Jose Laviña Soriano AU - Francisco De Borja Muñiz AU - María Castillo García AU - Diego Morena Vallés AU - Ana Ampuero López AU - José Luis Izquierdo Alonso AU - José Miguel Rodríguez Gonzalez Moro Y1 - 2019/09/28 UR - http://erj.ersjournals.com/content/54/suppl_63/PA4355.abstract N2 - Introduction: The deficit of alpha 1 antitrypsin (A1AT) is caused by mutations in the A1AT gene (long arm chromosome 14). The aim of this study is to analyze the prevalence of mutations in this gene in patients with pulmonary emphysema without severe A1AT deficiency (<35% of normal value or <60mg /dl).Material and Methods: Between July and December of 2018, 45 patients with pulmonary emphysema on CT were recruited in Guadalajara and Alcalá de Henares. The genetic analysis was carried out by Progenika Biopharma, S.A. by obtaining DNA to identify the genetic alteration in the A1AT gene, analyzing the 14 most frequent mutations. Table 1 describes the characteristics of the patients.View this table:Results: Genetic mutations were detected in 9 patients (20%). The relationship between the mutations observed and the levels of α-1 antitrypsin are shown in Table 2.View this table:Table 2. Mutations detected and serum levels of alpha 1 antitrypsinConclusions: The genetic test of A1AT is useful to detect mutations in patients with pulmonary emphysema, even in those without severe A1AT deficiency.FootnotesCite this article as: European Respiratory Journal 2019; 54: Suppl. 63, PA4355.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). ER -