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Alpha-1 Antitrypsin Deficiency

Alpha-1 antitrypsin (AAT) deficiency is a genetic disorder that is passed on in families and affects the lungs, liver and skin. When this condition affects the lungs, it causes emphysema, a part of COPD (chronic obstructive pulmonary disease) along with chronic bronchitis.

Learn About Alpha-1 Antitrypsin Deficiency

In alpha-1 antitrypsin deficiency, AAT levels are reduced, allowing elastase enzymes to increase. This results in the destruction of lung tissue and the development of emphysema.

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Alpha-1 Antitrypsin Deficiency Symptoms, Causes and Risk Factors

Individuals with AAT deficiency may have a wide variety of symptoms. Symptoms can appear early in life or may not begin until a person is 50 or 60 years old.

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Diagnosing and Treating Alpha-1 Antitrypsin Deficiency

All individuals with COPD or emphysema, regardless of age or ethnicity should be tested for AAT deficiency. Not every individual with AAT deficiency will require treatment especially if they have one of the less severe genetic alterations to the AAT gene.

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Living with Alpha-1 Antitrypsin Deficiency

Once diagnosed with AAT, several steps can be taken to control disease symptoms and result in a normal life. See tips for what to expect, managing the disease and finding support for AAT deficiency.

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Questions to Ask Your Doctor about Alpha-1 Antitrypsin Deficiency

Making notes before your visit, as well as taking along a trusted family member or friend, can help you through the first appointment with your doctor. Here are a few questions to ask your doctor about Alpha-1.

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This content was developed in partnership with the CHEST Foundation, the philanthropic arm of the American College of Chest Physicians.

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