AATD251

Are You and Your Team Ready? Evolving Opportunities to Identify At-Risk Patients and Change the Trajectory of Alpha-1 Antitrypsin Deficiency (AATD)-Associated Liver Disease

Train the Trainer

Alpha-1 antitrypsin deficiency (AATD), a multisystem genetic disorder caused by mutations in the SERPINA1 gene, affects nearly 3 million people worldwide. AATD can manifest with overlapping symptoms common to pulmonary conditions such as chronic obstructive pulmonary disease (COPD), asthma, and bronchiectasis, as well as unexplained liver diseases, making symptom-based diagnosis alone unreliable. Although lung manifestations of AATD typically appear in adulthood and are more common, liver problems, which can arise at any age, are the second most common clinical manifestation and cause of death in patients with AATD.

Unfortunately, clinicians often misattribute AATD liver manifestations to more common conditions such as metabolic dysfunction-associated steatotic liver disease (MASLD) or alcohol-related liver disease, and lung symptoms to COPD or asthma without investigating an inherited etiology, leading to substantial underdiagnosis. Moreover, for those patients with a confirmed diagnosis, there are currently no specific treatment options available for AATD-related liver disease (AATD-LD), but emerging therapies may soon profoundly shift the AATD treatment paradigm.

To support specialists in their ability to navigate this complexity and support peer-to-peer learning, this training program, modeled on the CDC Training of Trainers approach, provides learners with the tools and resources to enhance early diagnosis, refine noninvasive monitoring, and support informed decision-making around emerging therapies with the potential to improve outcomes for individuals with AATD-LD.

Faculty: Virginia Clark, MD, MS, Charlie Strange, MD

Release Date: October 31, 2025

Expiration Date: October 31, 2026