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Diseases

Genetic and Rare Diseases Information Center (GARD)

Alpha-1 antitrypsin deficiency


Other Names for this Disease
  • AAT deficiency
  • A1AT deficiency
  • AATD
  • Alpha 1 antitrypsin deficiency
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Cause

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What causes alpha-1 antitrypsin deficiency?

Alpha-1 antitrypsin deficiency (AATD) is caused by mutations in the SERPINA1 gene. This gene gives the body instructions to make a protein called alpha-1 antitrypsin (AAT), which protects the body from an enzyme called neutrophil elastase. Neutrophil elastase helps the body fight infections, but it can also attack healthy tissues (especially the lungs) if not controlled by AAT.

Mutations that cause AAT can cause a deficiency or absence of AAT, or a form of AAT that does not work well. This allows neutrophil elastase to destroy lung tissue, causing lung disease. In addition, abnormal AAT can build up in the liver and cause damage to the liver.

The severity of AATD may also be worsened by environmental factors such as exposure to tobacco smoke, dust, and chemicals.[1]
Last updated: 4/7/2016

References
  1. Alpha-1 antitrypsin deficiency. Genetics Home Reference. January 2013; http://www.ghr.nlm.nih.gov/condition/alpha-1-antitrypsin-deficiency.


Other Names for this Disease
  • AAT deficiency
  • A1AT deficiency
  • AATD
  • Alpha 1 antitrypsin deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.