Abstract

Rationale: The relationship between bronchiectasis and alpha1-antitrypsin deficiency (AATD) remains unclear. The limited number of studies addressing this issue estimate a prevalence of bronchiectasis in AATD of 16.9%-95%, mainly in association with the presence of emphysema.

Aim: Assess the prevalence and characteristics of bronchiectasis in patients with AATD.

Methods: Retrospective study of AATD patients of the outpatient clinic of a Portuguese Hospital, in whom a CT scan was obtained. Data was obtained from patient files.

Results: We included 114 patients, 57.9% males, mean age 58.2±15.8 years, with different genotypes. 29.8% had evidence of bronchiectasis on CT scan. Bronchiectasis were cylindrical in 94.2% of cases and affected =2 lobes in 79.4% of patients (most frequently the lingula/middle lobe and/or lower lobes). 94.1% of patients were symptomatic: 79.4% had dyspnoea, 52.9% chronic sputum production and 47.0% frequent exacerbations.

Patients had different genotypes. AAT mean serum level was 66.0±33.9mg/dL (0-143). Patients with bronchiectasis had lower AAT serum levels (p=0.015).

41,2% of patients had emphysema, most often of the panlobular type (55.3%), more prominent at the bases. Although 38.2% patients had bronchiectasis without radiological evidence of emphysema, there was a relationship between the presence of emphysema and bronchiectasis (p=0.004).

Conclusions: The prevalence of bronchiectasis in patients with AATD was significant. The majority of patients were symptomatic and had cylindrical bronchiectasis affecting multiple lobes. The presence of bronchiectasis was related to lower AAT serum levels and to the presence of emphysema, although >1/3 of patients had bronchiectasis without radiological evidence of emphysema.