Test/Profile NameAlpha-1-Antitrypsin, Serum
People with alpha-1 antitrypsin (AAT) deficiency are at a considerable risk of developing emphysema, a progressive lung disease, in early adulthood. If they smoke or are exposed to occupational dust or fumes, the lung damage tends to occur sooner and be more severe.
Certain types of dysfunctional AAT accumulate in the liver cells, where it is produced. As AAT builds up in these cells, it forms abnormal protein chains and begins to destroy the cells and damage the liver. About 10% of newborns with AAT deficiency have liver damage and are jaundiced. In severe cases, these infants may require a liver transplant to survive.
In adults with AAT deficiency, the risk of developing chronic liver disease, cirrhosis, and liver cancer (hepatocellular carcinoma) is increased.
Specimen Type and Minimal VolumeVariable Please confirm with the laboratory prior to testing.