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9
Improving Screening for Alpha-1 Antitrypsin Deficiency in Adults with COPD
Joint Commission Journal on Quality and Patient Safety
|August 8, 2025
Summary
Testing rates for Alpha-1 antitrypsin deficiency (AATD) in COPD patients increased significantly, identifying carriers and aiding disease prevention. Further studies are recommended for carriers and their offspring.
Area of Science:
- Pulmonology
- Genetics
- Healthcare Management
Background:
- Alpha-1 antitrypsin deficiency (AATD) is an underrecognized hereditary condition affecting ~2% of COPD patients in the US.
- AATD is linked to COPD progression and increased mortality.
- Current AATD testing rates in COPD patients are critically low (2.0%).
Purpose of the Study:
- To improve Alpha-1 antitrypsin deficiency (AATD) testing rates in adult COPD patients within primary care.
- To reach a 75% testing rate within an eight-week timeframe.
Main Methods:
- Utilized a Plan-Do-Study-Act (PDSA) process over eight weeks with four cycles.
- Implemented a shared decision-making checklist for AATD screening and testing.
- Introduced a standard of care log based on current evidence for COPD patients.
Main Results:
- AATD testing rates increased from 2.0% to 38.1%.
- No patients tested positive for AATD diagnosis (two abnormal alleles).
- 19.7% of patients were identified as AATD carriers (one abnormal, one normal allele).
Conclusions:
- Implementing a standard of care can enhance disease prevention and slow progression through early AATD identification.
- Further research is needed to evaluate AATD carriers and their offspring.
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