Alpha 1 Antitrypsin Deficiency

Alpha 1 Antitrypsin Deficiency

Alpha-1 antitrypsin (AAT) deficiency is a clinically under-recognized genetic disorder that causes the defective production of alpha-1 antitrypsin protein. AAT protein protects the body from the neutrophil elastase enzyme which is released from white blood cells to fight infection. This inherited disorder leads to decreased AAT activity in the blood and lung and deposition of excessive abnormal AAT protein in the liver.

Both deficiency and an abnormal form of AAT are due to mutations in the SERPINA1 gene. Without enough functional AAT, neutrophil elastase destroys alveoli and causes lung disease. Abnormal AAT can also accumulate in the liver and cause damage to this organ. People with AAT deficiency usually develop the first signs and symptoms of lung disease between ages 20 and 50. It is well-documented that the rate of decline in lung function is strongly dependent on cigarette smoking.


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