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Alpha-1 Antitrypsin Deficiency, or Alpha-1, is an inherited, genetic condition that is passed on from generation to generation. It is characterized by a reduced level in the blood of a particular protein called alpha-1 antitrypsin, abbreviated as AAT. Virtually all the alpha-1 antitrypsin in the blood is produced in the liver. In individuals with Alpha-1, the decreased levels of AAT are the result of abnormalities in the AAT gene. This abnormality causes the AAT to function poorly, to be poorly manufactured, or most commonly, to be poorly released from the liver cells.

Important facts about Alpha-1:

  • It is a genetic disorder that leads to low or undetectable levels of AAT
  • May cause lung disease in adults
  • May cause liver damage that gets worse over time in adults, children and infants
  • Often goes undetected for years
  • Can be treated, but cannot be cured without a liver transplant
  • Is easy to find through a blood test

Alpha-1 Antitrypsin Deficiency is not a disease. Instead, it is more accurately described as a condition or a disorder that increases the risk of developing disease, particularly of the lungs and the liver.