Clinical Scorecard: Differences in α1-Antitrypsin Deficiency Testing and Treatment Among US Adults
At a Glance
Category
Detail
Condition
α1-Antitrypsin deficiency (AATD), an inherited disorder caused by inadequate α1-antitrypsin.
Key Mechanisms
AAT is a circulating serine protease inhibitor encoded by SERPINA1; deficiency variants, especially S and Z, are associated with increased risk of obstructive lung disease and other conditions.
Target Population
US adults receiving Veterans Affairs care with COPD, asthma, asthma-COPD overlap, or spirometry-confirmed airflow obstruction; the study also assessed augmentation therapy among patients identified with AATD.
Care Setting
Retrospective cohort study using national Veterans Affairs electronic health record data from January 2000 through December 2024.
Key Highlights
AATD is underdiagnosed, and testing is infrequent among people with COPD or asthma.
The study assessed AATD testing and associated sociodemographic and geographic factors in VA patients with COPD and/or asthma.
AATD testing was defined as at least one serum AAT measurement and/or AAT genotype analysis during the study period.
For this study, AATD was identified by serum AAT below 100 mg/dL, ZZ, SZ, or SS genotype, or a prescription for augmentation therapy.
Among patients diagnosed with AATD, the study assessed augmentation therapy frequency and characteristics associated with receiving a prescription.
Guideline-Based Recommendations
Diagnosis
The American Thoracic Society/European Respiratory Society recommends AATD testing in patients with COPD, unresponsive asthma, cryptogenic liver disease, bronchiectasis, panniculitis, or c-antineutrophil cytoplasmic antibodies vasculitis.
Guidelines cited in the article recommend testing adults with COPD, adult-onset or treatment-resistant asthma, or persistent airflow obstruction.
Management
The study evaluated prescriptions for intravenous AAT augmentation products; the provided article text does not specify treatment recommendations.
Monitoring & Follow-up
The provided article text does not describe a monitoring schedule.
Risks
AATD is associated with increased risk of obstructive lung disease, liver disease, c-antineutrophil cytoplasmic antibodies vasculitis, panniculitis, and bronchiectasis.
The article identifies low testing rates and underdiagnosis as concerns, including among veterans with COPD or related conditions.
Patient & Prescribing Data
VA patients with at least two encounters documenting COPD and/or asthma between January 2000 and December 2024; included diagnoses were COPD, asthma, asthma-COPD overlap, or spirometry-confirmed airflow obstruction.
The study assessed augmentation therapy among patients identified with AATD, defining treatment as any recorded prescription for an intravenous AAT augmentation product. The provided text reports no treatment frequency or prescribing results.
Clinical Best Practices
Consider AATD testing in the patient groups specified by the cited ATS/ERS recommendations.
