Summary

• 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.