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. There is currently ongoing clinical study of investigational specific drug for the treatment of liver disease associated with alpha-1 antitrypsin deficiency which targets the accumulation of misfolded protein in the liver.