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Alpha-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


  • Basilar predominance

  • Bullae at both lung bases

  • Marked flattening of the diaphragm

  • Redistribution of blood to the upper lung zones

  • Associated with cirrhosis in homozygous individuals