Parents

There are three main clinical consequences of dysfunctional alpha-1 antitrypsin:

•    Emphysema due to AAT deficiency,
•    Emphysema-cirrhosis, due to AAT deficiency,
•    Hemorrhagic diathesis due to antithrombin Pittsburgh.

Environmental factors, particularly cigarette smoking, greatly increase the risk of emphysema at an earlier age.
The diagnosis of AATD relies on demonstrating low serum AAT concentration and the identification of biallelic pathogenic variants in SERPINA1.