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Alpha-1 Antitrypsin Deficiency

Alpha_1 Antitrypsin DeficiencyMain ImageAlpha-1 Antitrypsin Deficiency (AAT or Alpha-1 deficiency) is a hereditary condition that results in reduced levels of alpha-1 antitrypsin (AAT) protein in the blood and lungs. This protein, which is made mostly in the liver, helps protect lung tissue from chemicals released by white blood cells.1 People with low levels of AAT protein are at higher risk for developing lung diseases such as emphysema.

While not all people with low levels of AAT protein are symptomatic, some may experience symptoms similar to asthma or Chronic Obstructive Pulmonary Disease (COPD), including emphysema. However, AAT deficiency is different because it is an inherited condition where abnormal alpha-1 antitrypsin genes are passed down from parents to their children.2

It is estimated that about 1 in every 2,500 Americans have AAT deficiency. In addition an estimated 19 million people in the United States are carriers for it, having one normal and one defective alpha-1 antitrypsin gene.1 Given this, people with AAT deficiency—as well as carriers—should encourage their parents, children, and siblings to be tested for the disorder. After they are tested, it may be important to start making lifestyle changes now to help prevent or delay symptoms of the disease.

With a deep understanding of AAT deficiency, misdiagnosis, and generational impact, we continue to partner with the Alpha-1 community to provide leadership in delivering treatments and support.

Community Organizations

The following organizations may be a resource for information and support for patients, families, caregivers, healthcare providers, and researchers. Always speak with a physician or healthcare provider regarding any questions.

Organization_Alpha1_Approved_Logo Alpha-1 Foundation

Committed to finding a cure and improving the lives of those living with Alpha-1 worldwide.

References

  1. Alpha-1 Foundation "What is Alpha-1". https://www.alpha1.org/what-is-alpha1 Brochure Referenced November 21, 2016.
  2. American Thoracic S, European Respiratory S. 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. Oct 1 2003;168(7):818-900. 

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