%0 Journal Article %A Stefania Ottaviani %A Bruno Balbi %A Valentina Barzon %A Alice Maria Balderacchi %A Alessandra Corino %A Davide Piloni %A Francesca Mariani %A Angelo Guido Corsico %A Ilaria Ferrarotti %T Different clinical suspect that brings to the diagnosis of alpha1-antitrypsin deficiency %D 2020 %R 10.1183/13993003.congress-2020.995 %J European Respiratory Journal %P 995 %V 56 %N suppl 64 %X Background: Even though Alpha 1-antitrypsin deficiency (AATD) has been classified as a rare disease, it is one of the most common hereditary disorders. Evidently, AATD is substantially under-recognized. Emphysema is currently considered the lung disease most frequently associated to severe AATD.Objectives: We investigated if underdiagnosis is due to the fact that AATD is not appropriately ruled out in patients with chronic obstructive pulmonary disease (COPD) and asthma, in contrast with recommendation by guidelines.Methods: A total of 4441 subjects, consecutively referred to Italian Reference Centre for AATD Diagnosis between 2000 and 2018 because of lung diseases, have been evaluated in the present study. In particular, we considered each clinical respiratory phenotype, as reported by the Italian pulmonologists sending the samples with suspected AATD, to confirm the diagnosis by molecular analysis.Results: Emphysema represents the most frequent clinical phenotype in subjects with lung diseases and severe AATD in the Italian cohort (60.5%); nevertheless, emphysema is also the lung disease to which pulmonologists mainly focus their suspect of AATD. Considering each clinical phenotype, severe AATD resulted in 7.6%, 6.5%, and 4.7% patients with emphysema, chronic bronchitis and asthma, respectively. Peaks of incidence of severe AATD were detected in never smoker-females with emphysema (15.6%), female with chronic bronchitis (8.5%), and never smoker-males with asthma (6%).Conclusions: The accurate description of clinical lung phenotypes of patients diagnosed with AATD could help pulmonologists to increase their ability to identify new AATD cases, improving the disease management.FootnotesCite this article as: European Respiratory Journal 2020; 56: Suppl. 64, 995.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). %U