Alpha 1 Antitrypsin Deficiency

Alpha 1 Antitrypsin Deficiency can lead to panacinar emphysema. This condition is autosomal recessive (codominant) and caused by SERPINA1 mutations. Normally, alpha-1 antitrypsin is synthesized in the liver and acts in the lungs. It inhibits enzymes like elastase. However when there is an imbalance in antiprotease and protease levels, the elastase in macrophages can destroy basement membranes leading to emphysema. When alpha-1 antitrypsin is not released from the liver, it can cause cirrhosis. The phenotype ZZ is the most severe form of ATT deficiency while the null does not cause hepatitis.