Eric,
living with HAE, supported by OnePath
Hear Eric’s story

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Alpha-1 antitrypsin deficiency

Alpha-1 antitrypsin (AAT) is a protein made in the liver that protects lungs from damage. Certain genetic changes lead to insufficient amounts of the AAT protein being produced and available to protect lungs properly. Reduced levels of AAT protein are associated with severe AAT deficiency and may put adults at higher risk of lung damage. Some individuals with AAT deficiency have advanced lung disease like emphysema which is a type of chronic obstructive pulmonary disease (COPD). The name for this medical condition is alpha-1 antitrypsin deficiency (AATD).

What causes AAT deficiency?

When you breathe, your lungs expand with each inhalation and contract when you exhale. The air sacs in the lung have a protein called elastin that gives them the ability to expand and contract. AAT protects the elastin protein and air sacs; when AAT is deficient, air sacs may be damaged, reducing breathing ability. People may experience shortness of breath especially with exertion, as well as wheezing and coughing.

Everyone receives one copy of the gene for AAT from each parent, and usually these are normal. People with AAT deficiency may have one normal and one damaged gene, or two damaged genes. A person with one normal and one damaged gene may still make enough AAT to stay healthy, especially if they don’t smoke. In some cases, people with one normal gene may nevertheless develop AAT-related emphysema. But when both genes are damaged, there is a high likelihood of AAT-deficient emphysema.

About AAT deficiency

AAT deficiency is an inherited condition found in all ethnic groups but most prevalent in Whites of European ancestry. In adults it is usually seen as lung disease, with symptoms such as shortness of breath with mild activity, low ability to exercise, and wheezing. These symptoms often appear between the ages of 20 and 40 and worsen over time. Smoking and exposure to smoke and other environmental pollutants cause additional damage to the lungs, making symptoms more severe.

How is AAT deficiency diagnosed?

Because the AAT protein is made in the liver and carried by the bloodstream to the lungs, levels can be measured in the blood. Patients suspected of having AATD should be tested for AAT deficiency. Testing a blood sample is the only method to diagnose alpha-1 antitrypsin deficiency (AATD).

The blood sample will usually be tested in 3 different ways:

  • Measuring the amount of AAT protein in a person’s blood by a test of AAT levels.
  • Determining the type of AAT protein that a person has through an AAT phenotype test
  • Examination of a person’s AAT genes and genotype through alpha-1 genotyping

Genetic testing is used to identify patients with AAT protein deficiency who may be at high risk of developing lung damage.

Inheritance of AAT deficiency

Where can I find support?

If you or a loved one has been diagnosed with AAT deficiency, you’re not alone. Connecting with others can give you a way to learn from people who have been where you are. Reach out and get involved!

Takeda provides funding to some of the below organizations in support of efforts that include, but are not limited to: research, education, meetings/events and support.

Alpha 1 Foundation

The Alpha-1 Foundation is a not-for-profit Florida corporation created to promote research and the development of new therapies for improving the quality of life for those diagnosed with Alpha-1. The website contains patient support resources, HCP locator tools, ongoing grants offered and links to events.

National Organization for Rare Disorders (NORD)

A rare disease umbrella organization that provides advocacy, research, education and patient services in the US. See how they help and find out how you can get involved.

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