Alpha-1 Antitrypsin Deficiency: Closing the Diagnosis Gap, Evaluating Current Treatments, and Preparing for the Next Generation of Therapy

AATD is better understood as a genetic predisposition than a single disease. Genotype, codominant inheritance, and environmental exposure together shape who develops lung or liver disease and how severe it becomes.

A serum level is a snapshot, while genotype is the blueprint. Relying on levels alone misses carriers and mislabels patients, and the resulting diagnostic gap carries real clinical and economic costs.