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

Edward Eden, Radmila Choate, Alan Barker, Doreen Addrizzo-Harris, Timothy Aksamit, Charles L. Daley, M. Leigh Anne Daniels, Angela DiMango, Kevin Fennelly, David E. Griffith, Margaret Johnson, Michael R. Knowles, Mark L. Metersky, Peadar G. Noone, Anne E. O'Donnell, Kenneth N. Olivier, Matthias A. Salathe, Andreas Schmid, Byron Thomashow, Gregory Tino & 2 others Gerard M. Turino, Kevin L. Winthrop

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

Objective: This study compares and contrasts the clinical features of non-cystic fibrosis bronchiectasis with 3 uncommon disorders known to be associated with bronchiectasis but with distinctly different underlying defined pathophysiologic derangements, namely severe alpha-1 antitrypsin deficiency (AATD), common variable immunodeficiency (CVI) and primary ciliary dyskinesia (PCD). Methods: The Bronchiectasis Research Registry provides a central database for studying patients with noncystic fibrosis bronchiectasis. This report consists of information from 13 U.S. sites pertaining to the 3 study diagnoses. Patients with AATD (SZ and ZZ phenotypes only), CVI (patients with IgG≤500), PCD (history of physician diagnosed Kartagener's syndrome or PCD), and patients with confirmed absence of the above 3 diagnoses (idiopathic control group) were included in the study. Descriptive statistics were computed for the main demographic and clinical characteristics of the sample stratified by group. Values between the groups were compared using Kruskal-Wallis test, and Chi-squared/ Fisher's exact tests respectively. The significance level was set at 0.05. Software SAS 9.4 was used to perform the statistical analyses. Results: Of the 2170 participants in the database enrolled as of January 2017, 615 respondents had sufficient data and were included in the analyses. Patients with PCD (n=79, mean age 41.9 years [standard deviation (SD)=14.5]) were significantly younger than patients with AATD (n=58, mean age 66.9 [SD=10.7]), CVI (n=18, mean age 66.7 years [SD=10.5]) or the idiopathic group (n=460, mean age 64.2 [SD=15.9]), p < .0001. Compared to other groups, those with PCD had lower pulmonary function (forced expiratory volume in 1 second [FEV 1 ] forced vital capacity [FVC] and FEV 1 /FVC ratio) (p < 0.01), and a greater proportion of them reported having exacerbations and/or hospitalizations in the past 2 years (p < 0.01). Overall, Pseudomonas aeruginosa and Staphylococcus aureus were the organisms most commonly isolated from sputum. Mycobacterial infection was most commonly reported in those with AATD. Conclusions: This report from the U.S. Bronchiectasis Research Registry compares and contrasts differences in the clinical features of patients suffering from 3 rare conditions, with different underlying causes, to those without. The group with PCD had more symptoms, greater morbidity, lower lung function and more commonly were infected by Pseudomonas aeruginosa. A greater percentage of those with AATD reported mycobacterial lung involvement.

Original languageEnglish (US)
Pages (from-to)145-153
Number of pages9
JournalChronic Obstructive Pulmonary Diseases
Volume6
Issue number2
DOIs
StatePublished - Jan 1 2019

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Kartagener Syndrome
alpha 1-Antitrypsin Deficiency
Common Variable Immunodeficiency
Bronchiectasis
Registries
Research
Vital Capacity
Forced Expiratory Volume
Lung
Pseudomonas aeruginosa
Fibrosis
Databases
Autosomal Recessive alpha-1-Antitrypsin Deficiency
Sputum
Staphylococcus aureus
Hospitalization
Software
Demography
Morbidity
Physicians

Keywords

  • Alpha-1 antitrypsin deficiency
  • Bronchiectasis
  • Bronchiectasis Research Registry
  • Common variable immunodeficiency
  • Primary ciliary dyskinesia

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine

Cite this

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. / Eden, Edward; Choate, Radmila; Barker, Alan; Addrizzo-Harris, Doreen; Aksamit, Timothy; Daley, Charles L.; Daniels, M. Leigh Anne; DiMango, Angela; Fennelly, Kevin; Griffith, David E.; Johnson, Margaret; Knowles, Michael R.; Metersky, Mark L.; Noone, Peadar G.; O'Donnell, Anne E.; Olivier, Kenneth N.; Salathe, Matthias A.; Schmid, Andreas; Thomashow, Byron; Tino, Gregory; Turino, Gerard M.; Winthrop, Kevin L.

In: Chronic Obstructive Pulmonary Diseases, Vol. 6, No. 2, 01.01.2019, p. 145-153.

Research output: Contribution to journalArticle

Eden, E, Choate, R, Barker, A, Addrizzo-Harris, D, Aksamit, T, Daley, CL, Daniels, MLA, DiMango, A, Fennelly, K, Griffith, DE, Johnson, M, Knowles, MR, Metersky, ML, Noone, PG, O'Donnell, AE, Olivier, KN, Salathe, MA, Schmid, A, Thomashow, B, Tino, G, Turino, GM & Winthrop, KL 2019, '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 Obstructive Pulmonary Diseases, vol. 6, no. 2, pp. 145-153. https://doi.org/10.15326/jcopdf.6.2.2018.0156
Eden, Edward ; Choate, Radmila ; Barker, Alan ; Addrizzo-Harris, Doreen ; Aksamit, Timothy ; Daley, Charles L. ; Daniels, M. Leigh Anne ; DiMango, Angela ; Fennelly, Kevin ; Griffith, David E. ; Johnson, Margaret ; Knowles, Michael R. ; Metersky, Mark L. ; Noone, Peadar G. ; O'Donnell, Anne E. ; Olivier, Kenneth N. ; Salathe, Matthias A. ; Schmid, Andreas ; Thomashow, Byron ; Tino, Gregory ; Turino, Gerard M. ; Winthrop, Kevin L. / 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. In: Chronic Obstructive Pulmonary Diseases. 2019 ; Vol. 6, No. 2. pp. 145-153.
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abstract = "Objective: This study compares and contrasts the clinical features of non-cystic fibrosis bronchiectasis with 3 uncommon disorders known to be associated with bronchiectasis but with distinctly different underlying defined pathophysiologic derangements, namely severe alpha-1 antitrypsin deficiency (AATD), common variable immunodeficiency (CVI) and primary ciliary dyskinesia (PCD). Methods: The Bronchiectasis Research Registry provides a central database for studying patients with noncystic fibrosis bronchiectasis. This report consists of information from 13 U.S. sites pertaining to the 3 study diagnoses. Patients with AATD (SZ and ZZ phenotypes only), CVI (patients with IgG≤500), PCD (history of physician diagnosed Kartagener's syndrome or PCD), and patients with confirmed absence of the above 3 diagnoses (idiopathic control group) were included in the study. Descriptive statistics were computed for the main demographic and clinical characteristics of the sample stratified by group. Values between the groups were compared using Kruskal-Wallis test, and Chi-squared/ Fisher's exact tests respectively. The significance level was set at 0.05. Software SAS 9.4 was used to perform the statistical analyses. Results: Of the 2170 participants in the database enrolled as of January 2017, 615 respondents had sufficient data and were included in the analyses. Patients with PCD (n=79, mean age 41.9 years [standard deviation (SD)=14.5]) were significantly younger than patients with AATD (n=58, mean age 66.9 [SD=10.7]), CVI (n=18, mean age 66.7 years [SD=10.5]) or the idiopathic group (n=460, mean age 64.2 [SD=15.9]), p < .0001. Compared to other groups, those with PCD had lower pulmonary function (forced expiratory volume in 1 second [FEV 1 ] forced vital capacity [FVC] and FEV 1 /FVC ratio) (p < 0.01), and a greater proportion of them reported having exacerbations and/or hospitalizations in the past 2 years (p < 0.01). Overall, Pseudomonas aeruginosa and Staphylococcus aureus were the organisms most commonly isolated from sputum. Mycobacterial infection was most commonly reported in those with AATD. Conclusions: This report from the U.S. Bronchiectasis Research Registry compares and contrasts differences in the clinical features of patients suffering from 3 rare conditions, with different underlying causes, to those without. The group with PCD had more symptoms, greater morbidity, lower lung function and more commonly were infected by Pseudomonas aeruginosa. A greater percentage of those with AATD reported mycobacterial lung involvement.",
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T1 - 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

AU - Eden, Edward

AU - Choate, Radmila

AU - Barker, Alan

AU - Addrizzo-Harris, Doreen

AU - Aksamit, Timothy

AU - Daley, Charles L.

AU - Daniels, M. Leigh Anne

AU - DiMango, Angela

AU - Fennelly, Kevin

AU - Griffith, David E.

AU - Johnson, Margaret

AU - Knowles, Michael R.

AU - Metersky, Mark L.

AU - Noone, Peadar G.

AU - O'Donnell, Anne E.

AU - Olivier, Kenneth N.

AU - Salathe, Matthias A.

AU - Schmid, Andreas

AU - Thomashow, Byron

AU - Tino, Gregory

AU - Turino, Gerard M.

AU - Winthrop, Kevin L.

PY - 2019/1/1

Y1 - 2019/1/1

N2 - Objective: This study compares and contrasts the clinical features of non-cystic fibrosis bronchiectasis with 3 uncommon disorders known to be associated with bronchiectasis but with distinctly different underlying defined pathophysiologic derangements, namely severe alpha-1 antitrypsin deficiency (AATD), common variable immunodeficiency (CVI) and primary ciliary dyskinesia (PCD). Methods: The Bronchiectasis Research Registry provides a central database for studying patients with noncystic fibrosis bronchiectasis. This report consists of information from 13 U.S. sites pertaining to the 3 study diagnoses. Patients with AATD (SZ and ZZ phenotypes only), CVI (patients with IgG≤500), PCD (history of physician diagnosed Kartagener's syndrome or PCD), and patients with confirmed absence of the above 3 diagnoses (idiopathic control group) were included in the study. Descriptive statistics were computed for the main demographic and clinical characteristics of the sample stratified by group. Values between the groups were compared using Kruskal-Wallis test, and Chi-squared/ Fisher's exact tests respectively. The significance level was set at 0.05. Software SAS 9.4 was used to perform the statistical analyses. Results: Of the 2170 participants in the database enrolled as of January 2017, 615 respondents had sufficient data and were included in the analyses. Patients with PCD (n=79, mean age 41.9 years [standard deviation (SD)=14.5]) were significantly younger than patients with AATD (n=58, mean age 66.9 [SD=10.7]), CVI (n=18, mean age 66.7 years [SD=10.5]) or the idiopathic group (n=460, mean age 64.2 [SD=15.9]), p < .0001. Compared to other groups, those with PCD had lower pulmonary function (forced expiratory volume in 1 second [FEV 1 ] forced vital capacity [FVC] and FEV 1 /FVC ratio) (p < 0.01), and a greater proportion of them reported having exacerbations and/or hospitalizations in the past 2 years (p < 0.01). Overall, Pseudomonas aeruginosa and Staphylococcus aureus were the organisms most commonly isolated from sputum. Mycobacterial infection was most commonly reported in those with AATD. Conclusions: This report from the U.S. Bronchiectasis Research Registry compares and contrasts differences in the clinical features of patients suffering from 3 rare conditions, with different underlying causes, to those without. The group with PCD had more symptoms, greater morbidity, lower lung function and more commonly were infected by Pseudomonas aeruginosa. A greater percentage of those with AATD reported mycobacterial lung involvement.

AB - Objective: This study compares and contrasts the clinical features of non-cystic fibrosis bronchiectasis with 3 uncommon disorders known to be associated with bronchiectasis but with distinctly different underlying defined pathophysiologic derangements, namely severe alpha-1 antitrypsin deficiency (AATD), common variable immunodeficiency (CVI) and primary ciliary dyskinesia (PCD). Methods: The Bronchiectasis Research Registry provides a central database for studying patients with noncystic fibrosis bronchiectasis. This report consists of information from 13 U.S. sites pertaining to the 3 study diagnoses. Patients with AATD (SZ and ZZ phenotypes only), CVI (patients with IgG≤500), PCD (history of physician diagnosed Kartagener's syndrome or PCD), and patients with confirmed absence of the above 3 diagnoses (idiopathic control group) were included in the study. Descriptive statistics were computed for the main demographic and clinical characteristics of the sample stratified by group. Values between the groups were compared using Kruskal-Wallis test, and Chi-squared/ Fisher's exact tests respectively. The significance level was set at 0.05. Software SAS 9.4 was used to perform the statistical analyses. Results: Of the 2170 participants in the database enrolled as of January 2017, 615 respondents had sufficient data and were included in the analyses. Patients with PCD (n=79, mean age 41.9 years [standard deviation (SD)=14.5]) were significantly younger than patients with AATD (n=58, mean age 66.9 [SD=10.7]), CVI (n=18, mean age 66.7 years [SD=10.5]) or the idiopathic group (n=460, mean age 64.2 [SD=15.9]), p < .0001. Compared to other groups, those with PCD had lower pulmonary function (forced expiratory volume in 1 second [FEV 1 ] forced vital capacity [FVC] and FEV 1 /FVC ratio) (p < 0.01), and a greater proportion of them reported having exacerbations and/or hospitalizations in the past 2 years (p < 0.01). Overall, Pseudomonas aeruginosa and Staphylococcus aureus were the organisms most commonly isolated from sputum. Mycobacterial infection was most commonly reported in those with AATD. Conclusions: This report from the U.S. Bronchiectasis Research Registry compares and contrasts differences in the clinical features of patients suffering from 3 rare conditions, with different underlying causes, to those without. The group with PCD had more symptoms, greater morbidity, lower lung function and more commonly were infected by Pseudomonas aeruginosa. A greater percentage of those with AATD reported mycobacterial lung involvement.

KW - Alpha-1 antitrypsin deficiency

KW - Bronchiectasis

KW - Bronchiectasis Research Registry

KW - Common variable immunodeficiency

KW - Primary ciliary dyskinesia

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