- Genetic disorder with an autosomal inheritance pattern and codominant expression of alleles.
- Pulmonary and hepatic manifestations include emphysema and cirrhosis.
- Wegener's granulomatosis and necrotising panniculitis are infrequent complications but can prompt diagnosis.
- Plasma AAT levels, protein phenotyping, and protein genotyping may be necessary for diagnosis.
- Intravenous AAT augmentation therapy benefits some patients.
Last updated: Aug 31, 2012