Patient-Reported Pulmonary Symptoms, Exacerbations, and Management in a Cohort of Patients with Alpha-1 Antitrypsin Deficiency

Radmila Choate, Robert A. Sandhaus, Kristen E. Holm, David M. Mannino, Charlie Strange

Research output: Contribution to journalArticlepeer-review


Rationale: Identifying pulmonary exacerbations in patients with alpha-1 antitrypsin deficiency (AATD) is critical as they are associated with disease progression and poor health-related quality of life. Not all changes in usual respiratory symptoms will be identified as exacerbations by patients with AATD. Methods: Data collected via regular monthly telephone calls during the first year of the AlphaNet Step Forward Study were analyzed. AlphaNet subscribers were asked about changes in their usual respiratory symptoms, whether they considered changes in symptoms to be pulmonary exacerbations, and their management. Participants who reported changes in their usual respiratory symptoms throughout the year were included in the study. Per-patient and per-event analyses were performed. Results: Participants (n=316, age 58±10 years, 53% female) reported 797 events of changes in their usual respiratory symptoms in 1 year. Almost half (48%) of these symptom events were identified as pulmonary exacerbations by the study participants. The average number of symptoms was higher in events recognized by participants as exacerbations than those not identified as exacerbations (3.3±1.5 versus 1.8±1.1, respectively). A greater proportion of the exacerbation events were managed by taking antibiotics or corticosteroids or both (81%, 53%, and 41% of the events, respectively). With exacerbations, participants mainly spoke to the pulmonary specialist (39%) or went to the doctor’s office (37%). Symptom events not recognized as exacerbations were mostly self-treated (56%). Conclusion: Changes in usual pulmonary symptoms are not universally recognized as exacerbations. Patients’ perspectives in recognizing changes in pulmonary symptoms as exacerbation events are critical.

Original languageEnglish
Pages (from-to)549-561
Number of pages13
JournalChronic Obstructive Pulmonary Diseases
Issue number4
StatePublished - 2022

Bibliographical note

Funding Information:
This work was funded by AlphaNet, Inc., United States. We are extremely grateful for the superb work of all the AlphaNet Coordinators. We also thank the AlphaNet subscribers who participated in this study.

Funding Information:
DMM is a former employee and current shareholder of GlaxoSmithKline, a consultant to AstraZeneca, the COPD Foundation, and Schlesinger Law Firm, and receives royalties from Up-to-Date. RAS has grants to National Jewish Health from the Alpha-1 Foundation, Grifols, Vertex, and the National Institutes of Health /National Center for the Advancing Translational Sciences. He is a consultant/scientific advisor to Dicerna, Grifols, CSL Behring, Takeda, and Vertex and a Medical Director with AlphaNet. KEH has received consulting income from AlphaNet. RC has received research support from AlphaNet. CS has grants in alpha-1 antitrypsin deficiency or COPD paid to the Medical University of South Carolina from Adverum, Arrowhead, AstraZeneca, CSA Medical, Grifols, Nuvaira, Takeda. and Vertex. He is a medical director at AlphaNet. CS has consulted for Bronchus, Dicerna, GlaxoSmithKline, Pulmanage, and Vertex for alpha-1 and/or COPD.

Funding Information:
Abbreviations: alpha-1 antitrypsin deficiency, AATD; chronic obstructive pulmonary disease, COPD; health-related quality of life, HRQoL; Step Forward Study, SFS; body mass index, BMI; forced expiratory volume in 1 second, FEV1; forced vital capacity, FVC Funding Support: This study was funded by an unrestricted research grant from AlphaNet. Date of Acceptance: September 7, 2022 | Published Online Date: September 14, 2022 Citation: Choate R, Sandhaus RA, Holm KE, Mannino DM, Strange C. Patient-reported pulmonary symptoms, exacerbations, and management in a cohort of patients with alpha-1 antitrypsin deficiency. Chronic Obstr Pulm Dis. 2022;9(4):549-561. doi: jcopdf.2022.0317

Publisher Copyright:
© 2022 COPD Foundation. All rights reserved.


  • COPD
  • alpha-1 antitrypsin deficiency
  • exacerbations
  • pulmonary symptoms

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine


Dive into the research topics of 'Patient-Reported Pulmonary Symptoms, Exacerbations, and Management in a Cohort of Patients with Alpha-1 Antitrypsin Deficiency'. Together they form a unique fingerprint.

Cite this