a-1 Antitrypsin Deficiency

Rare autosomal recessive
a-1 antitrypsin is synthesized in the liver and released into the blood
It acts as a proteolytic inhibitor of trypsin, chymotrypsin, elastase, plasmin, thrombin, kallikrein, proteases, and it neutralizes circulating proteolytic enzymes
With a deficiency of a-1 antitrypsin, then PMNs and alveolar macrophages sequester in lungs and release elastase which digests basement membrane
Early onset (20-30 years)
Male: female ratio of 1:1
Rapid and progressive deterioration of lung function
Severe panacinar emphysema

X-ray