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Key Points
- Alpha-1 antitrypsin (AAT) deficiency is a
condition that raises your risk for certain types of lung disease, especially
if you smoke. A small number of people who have AAT deficiency develop liver
disease and a rare skin disease.
- Alpha-1 antitrypsin, also called AAT, is a
protein made in the liver. Normally, the protein goes into the bloodstream and
helps protect the body's organs from the harmful effects of other proteins. One
of the main organs it protects is the lungs.
- In AAT deficiency, the AAT proteins made in the
liver aren't the right shape. They get stuck inside liver cells and can't get
into the bloodstream. This means that the organs don't get enough protection,
and the liver has too much AAT protein in it.
- AAT deficiency is an inherited condition.
"Inherited" means it's passed from parents to children. If you have close
relatives with AAT deficiency, you're more likely to have the condition.
- You may not have any serious complications if you
have AAT deficiency, and you may live a normal lifespan. Many nonsmokers who
have AAT deficiency don't develop any serious related lung diseases.
- You may have AAT deficiency if you have signs and
symptoms of serious lung disease without any obvious cause. Another sign of AAT
deficiency is if you develop
emphysema at age 45 years or younger.
- Your doctor will diagnose AAT deficiency based on
your medical and family histories, any risk factors you have, and results from
diagnostic tests.
- AAT deficiency has no cure. However, the lung
diseases linked to this inherited condition have many treatments. These include
lifestyle changes, medicines, vaccines, rehabilitation, and surgery.
- You can't prevent AAT deficiency, because the
condition is inherited. If you inherit two altered AAT genes, you will have AAT
deficiency. However, you can take steps to prevent or delay the lung diseases
linked to this condition. Quitting smoking and avoiding places with dust,
fumes, and other toxic substances are important steps.
- Researchers continue to look for new treatments
for AAT deficiency.
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Living With Links
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