Robert Sandhaus, MD

The same AAT level can mean very different protease burdens in two patients. Severe deficiency drives the highest risk, yet carriers and unusual alleles complicate any simple relationship between numbers and disease.

Decades of guidelines have recommended testing every patient with COPD, yet testing remains rare. The panel examines who gets missed, why clinicians believe they can spot AATD, and what health plans can do.

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.