Alpha-1 Information

AAT Deficiency and Lung Damage animationView AAT Deficiency and Lung Damage Animation

Alpha1-antitrypsin (AAT) deficiency – Alpha-1 – is an inherited condition in which there are low levels or no levels of AAT in the blood.

AAT is an enzyme produced by the liver and released into the bloodstream. One of the primary roles of AAT is to protect your lungs from neutrophil elastase (NE), an enzyme released by white blood cells. Neutrophil elastase can attack healthy lung tissue if not controlled by AAT.

Individuals with AAT deficiency produce an abnormal AAT enzyme which is insufficiently secreted into the bloodstream. Those with AAT deficiency are at high risk for developing emphysema. In addition, approximately 10% of infants and 15% of adults with AAT deficiency experience liver damage.1

It is estimated that there are 60,000 - 100,000 people with AAT deficiency in the United States, with the majority undiagnosed.2,3

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Family Testing

Because Alpha-1 is a hereditary condition, getting your family members tested is strongly encouraged. Testing of family members can determine:

  • If they have Alpha-1
  • If they are carriers of Alpha-1

Prompt testing can prevent future delay of diagnosis in which disease progression and lung damage could occur.4 Although carriers may not experience symptoms, they may need to take special care to maintain their respiratory health.

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Visit Alpha1Health.com for more information about Alpha-1, including genetics, family testing, therapy options, and tips for living well.

  1. Alpha-1 antitrypsin deficiency. Genetics Home Reference: A Service of the National Library of Medicine. Available at http://ghr.nlm.nih.gov/condition=alpha1antitrypsindeficiency. (Accessed February 18, 2007.)
  2. American Lung Association. Alpha-1 Antitrypsin Deficiency Emphysema. Available at http://www.lungusa.org/site/apps/nlnet/content3.aspx?c=dvLUK9O0E&b=4294229&ct=3004003. (Accessed April 15, 2009.)
  3. de Serres FJ, Blanco I, Fernández-Bustillo E. Genetic epidemiology of alpha-1 antitrypsin deficiency in North America and Australia/New Zealand; Australia, Canada, New Zealand and the United States of America. Clin Genet 2003; 64; 382-397.
  4. American Thoracic Society/European Respiratory Society Statement. Standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency. Am J Respir Crit Care Med. 2003; 168:818-900.