A new study has found that patients with alpha-1 antitrypsin deficiency (AATD) may not identify changes in their pulmonary symptoms as exacerbations. The study, published in Chronic Obstructive Pulmonary Diseases, notes that the identification of exacerbations in AATD is critical because they are associated with disease progression and reduced quality of life.

“Symptom-based definitions of exacerbations rely on patient-reported changes in usual respiratory symptoms that frequently prompt contact with healthcare professionals for a diagnostic assessment,” the authors wrote.

The research team assessed Step Forward Study (SFS) survey data collected from a cohort of 316 patients with AATD who were subscribers of AlphaNet, a nonprofit organization in the US for individuals with the disease. The SFS was a 5-year study evaluating the efficacy of an intensive exercise and diet program in reducing body mass index and increasing physical activity.

Continue Reading

Read more about AATD therapies

Over a 1-year follow-up period between 2009 and 2010, the patients were asked about changes in their respiratory symptoms, and those reporting changes were included in this study. Those who identified the changes as exacerbations were asked how they managed their symptoms.

The cohort reported 797 change events in respiratory symptoms over the 1-year period. These included increased shortness of breath, cough, and sputum.

Nearly half of these events were recognized as exacerbations by the patients, and they were addressed by taking antibiotics (80.6%), steroids (53%), or both (41%). More than 38% of the events were not identified as exacerbations, and 14% reported no exacerbation status.

Given the significant impact of exacerbations on health-related quality of life and disease progression, the authors recommend refining the definitions of exacerbations to include both symptom-based and management definitions, with the aim of improving patient and clinician recognition and the treatment of these events.

“In this study, we aim to examine and describe patient perspectives in recognizing changes in usual respiratory symptoms as exacerbations and identify a potential gap in knowledge and barriers in reporting exacerbations in a cohort of patients with AATD,” they wrote.


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. Published online September 14, 2022. doi:10.15326/jcopdf.2022.0317