Other people in your family have AAT deficiency.You have been diagnosed with emphysema or COPD and want to find out if you have AAT deficiency.You have unexplained lung problems and want to know whether you have this condition.You may have emotional, financial, and family reasons for taking or not taking the test. The decision to have the test is personal. You receive the plasma through an IV, usually every 3 to 4 weeks for life. The plasma is made from the blood of many donors and is treated to reduce the chance of spreading an infectious disease. It is not clear that this treatment is any better than avoiding smoke and other lung-damaging chemicals. This is usually given only to people who have very low levels of AAT in their blood. The only treatment available for the lack of the protein is plasma containing alpha-1 antitrypsin. You may also need medicines and other treatments to help you breathe easier and stay as healthy and strong as you can. Exercise can improve your stamina and overall health. You also may want to avoid alcohol because of the risk of liver damage. Also try to avoid dust and workplace chemicals. Treatment for alpha-1 antitrypsin deficiency involves avoiding substances-especially cigarette smoke-that could harm your lungs. Some people who carry the changed gene may have very mild symptoms of the deficiency.
#ALPHA 1 ANTITRYPSIN DEFICIENCY HOW TO#
The good copy of the gene you received from your other parent is enough to tell your body how to properly make alpha-1 antitrypsin. If you receive only one changed gene, you do not have the disease but are a carrier. To have this condition, you have to get the changed gene from both parents. There are many kinds of possible changes in this gene, but only a few cause problems. AAT deficiency is a rare disorder and is the only known genetic (inherited) factor that increases your chances for developing emphysema.Īlpha-1 antitrypsin deficiency is caused by a change, or mutation, in the gene that tells the body how to make alpha-1 antitrypsin. Some types of abnormal AAT can also damage the liver. These people are more likely to have lung diseases and will get them at a younger-than-normal age (30 to 40 years old). Some people do not make enough of this protein or they make an abnormal type of AAT, either of which can cause AAT deficiency. It helps protect the lungs from diseases such as emphysema and chronic obstructive pulmonary disease (COPD). Alpha-1 antitrypsin (AAT) is a protein normally found in the lungs and the bloodstream.
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