Clinical Features of Three Rare Diseases Associated With Bronchiectasis

Severe alpha-1 antitrypsin deficiency, common variable immunodeficiency, and primary ciliary dyskinesia are all associated with bronchiectasis.

Although bronchiectasis is associated with numerous conditions, the first study to compare and contrast the clinical features of three rare diseases associated with bronchiectasis, namely severe alpha-1 antitrypsin deficiency (AATD), common variable immunodeficiency (CVI), and primary ciliary dyskinesia (PCD), was recently published in Chronic Obstructive Pulmonary Diseases.1

The United States Bronchiectasis Research Registry (BRR) provides a central database for the study of non-cystic fibrosis bronchiectasis.2 Bronchiectasis has been associated with AATD (a condition with defective protease inhibition), CVI (a mixed group of conditions with a defect in humoral immunity), and PCD with a defect in the airway clearance of secretions.3-5 To generate hypotheses about the pathogenesis of bronchiectasis associated with these conditions, researchers compared and contrasted information from this database of 79 patients with PCD, 58 patients with AATD, 18 patients with CVI, and 460 patients with idiopathic bronchiectasis.1

Patients with PCD were significantly younger (mean age, 41.9 years), had lower pulmonary function, and a greater proportion had exacerbation and/or hospitalizations in the previous 2 years compared with patients in the other groups. In addition, Pseudomonas aeruginosa and Staphylococcus aureus were most commonly isolated from sputum from all groups; however, the presence of P aeruginosa in at least one sputum sample was significantly more common in patients with PCD compared with patients in the other groups. Mycobacterial infection, however, was most commonly reported in those with AATD.

While there may have been some limitations to this study, including selection and reporting biases, the researchers concluded that, “this report adds to the sparse body of literature concerning the clinical characteristics of bronchiectasis in these conditions.”1

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  1. Eden E, Choate R, Barker A, et al. The clinical features of bronchiectasis associated with alpha-1 antitrypsin deficiency, common variable immunodeficiency and primary ciliary dyskinesia — results from the U.S. Bronchiectasis Research Registry. Chronic Obstr Pulm Dis. 2019;6(2):145-153.
  2. Aksamit TR, O’Donnell AE, Barker A, et al. Adult patients with bronchiectasis: a first look at the US Bronchiectasis Research Registry. CHEST. 2017;151(5):982-992.
  3. Parr DG, Guest PG, Reynolds JH, et al. Prevalence and impact of bronchiectasis in alpha1-antitrypsin deficiency. Am J Respir Crit Care Med. 2007;176(12):1215-1221.
  4. Gathmann B, Mahlaoui N, Gerard L, et al. Clinical picture and treatment of 2212 patients with common variable immunodeficiency. J Allergy Clin Immunol. 2014;134(1):116-126.
  5. Lobo LJ, Zariwala MA, Noone PG. Primary ciliary dyskinesia. QJM. 2014;107(9):691-699.