Igor Barjaktarevic, MD, PhD

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.

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.