Prevalence of SERPINA1 mutations in a bronchiectasis cohort: implications of extended screening for alpha-1 antitrypsin deficiency

AAT variants are not uncommon among patients with bronchiectasis. Presence of panlobular, diffuse or lower-lobe predominant emphysema should prompt AATD diagnostic consideration. However, the absence of emphysema does not exclude the diagnosis. Moreover, SERPINA1 variants may occur along with normal AAT serum levels. Clinicians should consider genotyping in patients with normal AAT levels, particularly when bronchiectasis remains unexplained.