TY - JOUR T1 - Diagnosing alpha-1 antitrypsin deficiency in Romania - first 1000 cases tested JF - European Respiratory Journal JO - Eur Respir J DO - 10.1183/13993003.congress-2020.1130 VL - 56 IS - suppl 64 SP - 1130 AU - Ana-Maria Zaharie AU - Valentin Caius Cosei AU - Alina Croitoru AU - Lavinia Davidescu AU - Joanna Chorostowska-Wynimko AU - Ruxandra Ulmeanu Y1 - 2020/09/07 UR - http://erj.ersjournals.com/content/56/suppl_64/1130.abstract N2 - Introduction: Alpha-1 antitrypsin deficiency (AATD) is a rare, underdiagnosed genetic disease involved in chronic obstructive pulmonary disease (COPD) pathogenesis. Since 2012 AATD is tested in Romania for at risk patients, with help from National Tuberculosis and Lung Diseases Research Institute, Warsaw, Poland (as refference laboratory).Aims: To identify the frequence of AATD in at risk group, to identify the severe AATD cases.Method: At risk patients (COPD, emphysema, difficult to control asthma, bronchiectasis or liver disease of unknown aetiology, necrotizing panniculitis, and also siblings of patients already identified) were tested using dry blood spot method. Plasmatic alpha-1 antitrypsin value, genotyping, phenotyping (isoelectric focusing) and (in elected cases) gene sequencing were performed in Warsaw laboratory.Results: A number of 1000 patients (mean age 49.42 +/-18.87 years, 60% men) were tested. Most common indication for testing was COPD (47% of cases). Modified genotype was identified in 77 patients (7.7%), for whom mean age is 45.3+/-19.14 years, mean FEV1 is 61.68+/-27.88% and the main pathology is COPD (25 patients). While most of the cases are heterozygotes (27 Pi*MS, 25 Pi*MZ, 12 rare variants), a number of 13 patients had severe AATD (1.3% of all patients, 16.8% of those this modified genotype): 4 Pi*ZZ, 4 Pi*SZ and 5 rare genotypes). Four of the severe cases are children.Conclusion: We noticed a moderate frequency of AATD among at risk patients. The identified cases are followed and their family are screened. Identification of AATD cases in at risk patients in Romania continues.FootnotesCite this article as: European Respiratory Journal 2020; 56: Suppl. 64, 1130.This abstract was presented at the 2020 ERS International Congress, in session “Respiratory viruses in the "pre COVID-19" era”.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 -