SERPINA1

Management

COPD is treated with standard therapy, whereas augmentation therapy and lung transplantation are alternatives for established emphysema and end-stage lung disease, respectively.
Liver transplantation is the definitive treatment for the severe AATD disease, whereas panniculitis may require high-dose AAT augmentation therapy if refractory to Dapsone or doxycycline therapy.
Surveillance methods such as pulmonary function tests, liver function tests, platelet count and ultrasound, and MRI are done every six to 12 months, depending on the clinical status.

Under-recognition of AATD leads to a delay in diagnosis and worst the symptoms, thus the American Thoracic Society/European Respiratory Society recommend genetic testing for AATD diagnosis and management.