Abstract Rationale Alpha-1 Antitrypsin Deficiency (AATD) affects approximately 1 in 3,500 individuals in the US, commonly manifesting as emphysema and Chronic Obstructive Pulmonary Disease (COPD). Clinical practice guidelines recommend quantitative serum Alpha-1 Antitrypsin (AAT) testing for all individuals with COPD. Treatment with AAT augmentation therapy is recommended for patients with AAT serum levels 11.0 µM to correct deficiency, prevent further lung destruction and stabilize disease. Despite this, AATD remains under-diagnosed. Accordingly, we sought to characterize AAT testing rates in the COPD/emphysema population and time from diagnosis to testing between 2015 and 2024. Methods Leveraging the TriNetX database, a retrospective cohort analysis from January 2015-December 2024 was performed. TriNetX’s US Research Network aggregates de-identified electronic health records and claims-based data from over 100 million patients at 72 health care organizations. For each year, we identified patients with a new COPD and/or emphysema ICD-10 code (J44, J43), at least one prior spirometry, and no prior AAT testing or AATD diagnosis. We then identified patients with those same characteristics who underwent serum AAT testing within 1, 3, 5 years, and anytime post-diagnosis. Demographics, outcomes, overall testing rates over time, and time from COPD/emphysema diagnosis to AAT test were assessed. Results We identified 67,222 patients with a new diagnosis of COPD or emphysema, who had undergone spirometry but no prior AAT testing, between January 2015 and December 2024. On average, 882 tests per 100,000 per year were completed. Of those who underwent testing, 1.05% (703) were completed within 1 year post-diagnosis; 1.51% (1014) within 3 years, 1.78% (1194) within 5 years; and 2.00% (1343) anytime post-diagnosis. Overall, 89% of those tested did so within 5 years of initial diagnosis. Conclusion This multi-center retrospective cohort study demonstrates that a small fraction of patients undergo AATD testing as indicated by clinical guidelines after COPD/emphysema diagnosis. Underdiagnosis places patients and families at risk of under-treated progressive disease with high morbidity and mortality. With new AATD therapies emerging, further studies should explore ways to improve diagnostic rates for the appropriate treatment of AATD-related COPD/emphysema. This abstract is funded by: None
Sergent et al. (Fri,) studied this question.