Alpha-1 antitrypsin deficiency: A persistently underrecognized condition
Alpha-1 Foundation | March 3, 2026
Dr. James K. Stoller, a nationally recognized leader in Alpha-1 Antitrypsin Deficiency (Alpha-1), has published a new article in the latest Cleveland Clinic Journal of Medicine titled “Alpha-1 antitrypsin deficiency: A persistently underrecognized condition.” The publication summarizes the critical gaps in Alpha-1 detection and outlines actionable strategies to improve awareness and diagnosis for this often-overlooked genetic condition.
“This publication in the Cleveland Clinic Journal of Medicine highlights both the urgency and the clear roadmap needed to advance Alpha-1 detection. Under Dr. Stoller’s leadership, as Chairman of the Education Institute at Cleveland Clinic and Board Chair of AlphaDetect, the need for a more effective and sustainable detection approach has come into sharp focus. The Alpha-1 Foundation is dedicated to supporting the nearly 90% of alphas who are unaware and remain undiagnosed. Through AlphaDetect, we are building a centralized detection cooperative that unites patients, providers, and partners in a coordinated, transformative effort to identify those at genetic risk for Alpha-1,” said Scott Santarella, A1F President & CEO.
“The strategies described by Dr. Stoller directly align with AlphaDetect’s approach to achieving earlier detection,” said Julie Murray, CEO of AlphaDetect, a nonprofit organization powered by the Alpha-1 Foundation. “We are committed to making it easier to detect Alpha-1 so that every individual at risk for this rare genetic lung and liver condition is identified earlier. By expanding provider education, partnering on innovative detection strategies, and offering free genetic testing, we can reduce barriers and make Alpha-1 testing a routine part of care. Together, we can ensure that individuals with Alpha-1, and those who care for them, have the timely answers they need.”
It is through the unwavering commitment of physicians like Dr. Stoller that we move our mission forward. Publications like this raise awareness and provide critical guidance to improve Alpha-1 Antitrypsin recognition and testing. Too often patients seek answers for years before receiving a diagnosis. As an Alpha-1 patient who was not diagnosed until my lung function had declined to 29%, I don’t want to see others endure the same long journey. Now is the time to strengthen Alpha-1 awareness, detection guidelines and access to testing so that earlier diagnosis becomes the standard, not the exception.” said Jon Hagstrom, A1F Chair Board of Directors
