Introduction: Alpha-1-antitrypsin deficiency (AATD) is a rare hereditary condition, which is characterized by low alpha-1 antitrypsin (AAT) serum levels. While the association between AATD and COPD/emphysema is indisputed, the association to bronchiectasis and asthma is a matter of debate.
Aims and Objectives: We compared the distribution of AAT genotypes between patients with COPD/emphysema, bronchiectasis and asthma.
Methods: Between 2003 and 2019, 27,223 testing kits (AlphaKit©) were analyzed in the German AAT laboratory, University of Marburg. The diagnosis of AATD was made through a measurement of AAT serum levels, followed by genotyping, phenotyping or whole gene sequencing depending on availability and/or the need for more detailed interpretation of the AAT results. Respiratory symptoms were additionally recorded on the kit.
Results: The distribution of the wild type (Pi*MM) was roughly comparable between the three groups. A higher percentage of COPD/emphysema and bronchiectasis patients exhibited the Pi*ZZ genotype as compared to asthma patients. In patients with bronchiectasis only, the distribution of alleles was as follows: M/M (59.4%), M/S (4%), M/Z (19.5%), S/S (0.8%), S/Z (2.8%), Z/Z (7.2%).
Figure 1: Distribution of AAT alleles among patients with COPD/emphysema, bronchiectasis and asthma
Conclusions: Not only patients with COPD/emphysema, but also patients with bronchiectasis (and asthma) should be screened for AATD.
Cite this article as: European Respiratory Journal 2020; 56: Suppl. 64, 4717.
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).