Learn About Alpha-1

What is Alpha-1?

Alpha-1 antitrypsin (AAT) deficiency* – Alpha-1 – is an inherited condition in which there are low levels or no levels of AAT in the blood. Individuals with AAT deficiency are at increased risk for developing emphysema. In addition, approximately 10% of infants and 15% of adults with AAT deficiency experience liver damage.1

*Also known as AAT Deficiency, AATD, A1-PI deficiency, alpha-1 proteinase deficiency, A1AD, or hereditary or genetic emphysema.

Is Alpha-1 Rare?

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

What Are the Symptoms that May Be Indications of Alpha-1?

The following symptoms and conditions may be indications of alpha-1 antitrypsin (AAT) deficiency.4

  • Early onset of emphysema (age 45 years or less)
  • COPD – emphysema, chronic bronchitis or bronchiectasis
  • Family history of any of the following: emphysema/COPD, liver disease or panniculitis
  • Asthma with minimal response to medication, inhalers
  • Shortness of breath with routine activity
  • Cough with or without mucus
  • Wheezing
  • Liver disease with unknown cause

How Does Alpha-1 Affect the Lungs?

Alpha-1 antitrypsin (AAT), also known as alpha1-proteinase inhibitor (A1-PI), is an enzyme produced by the liver and released into the bloodstream. One of the primary roles of naturally occurring AAT is to protect the lungs from neutrophil elastase (NE), an enzyme released by white blood cells.

If not controlled by AAT, neutrophil elastase can attack healthy lung tissue. As a result of the damage, the fragile alveolar walls become filled with “holes.” Destruction of the alveolar walls leads to less surface area for gas exchange, which leads to less oxygen in the blood.

Could I Have Alpha-1?

If you think you could have Alpha-1, here are some steps to take.

References

  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 April 7, 2010.
  2. American Lung Association. COPD Fact Sheet. Available at http://www.lungusa.org/lung-disease/copd/resources/facts-figures/COPD-Fact-Sheet.html.  Accessed April 7, 2010.
  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. Adapted from the American Thoracic Society/European Respiratory Society Statement. Standards for the diagnosis and management of individuals with AAT deficiency. Am J Respir Crit Care Med. 2003;168:818-900.