Abstract Rationale Alpha-1 antitrypsin deficiency (AATD) remains markedly underdiagnosed, with fewer than 10% of affected individuals identified. Individuals with AATD experience significant delays in diagnosis, reported between 5 to 10 years, with most of the AAT deficient population seeing multiple physicians before the initial diagnosis. Timely identification is critical for early intervention in AATD disease. Early detection can have multiple benefits such as identifying at-risk family members, lowering the likelihood of smoking, guiding therapy changes, and influencing occupational choices. Delayed diagnosis of AATD has been shown to worsen overall survival and transplant-free survival, independent from other risk factors. There have been many initiatives across different institutes to facilitate widespread, early detection of AATD individuals; and in this study, we have highlighted that there has been increased screening for AATD at our institution with the aim of identifying abnormal genotypes in patients who have obstructive lung disease. Methods This study was undertaken at the University of Florida-Jacksonville starting in May 2025. Reflex testing, with either oral swab or dry blood spot method, was implemented in the PFT lab by respiratory therapists for patients with known or suspected obstructive lung disease.Testing rates from this period were then compared to those from the same months in the previous year to assess changes in screening frequency. Results From May to October 2025, a total of 175 patients were tested, representing a 71% increase compared to 102 patients during the same period in the previous year. Between May 2024 and May 2025, 178 patients were tested in total.The most common genotype identified was M/M, observed in 159 cases (90.8%), followed by M/Z in 8 cases (4.5%) and M/S in 7 cases (4.0%). One case of S/Z was also detected. Conclusion Incorporating reflex AATD testing in the PFT Lab with the aid of trained respiratory therapists offers a comprehensive approach to identifying individuals at risk. As we expect to double our testing in the next year, we expect the identification of mutations to increase. We intend to utilize this information to incorporate it into the clinical context of each patient which may impact further management. Our ongoing efforts aim to promote earlier recognition and improve clinical outcomes in patients with AATD. This abstract is funded by: None
Fadairo et al. (Fri,) studied this question.
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