Alpha-1 Antitrypsin Deficiency Genetic Testing - What Is Alpha-1 Antitrypsin Deficiency?
antitrypsin (AAT) is a
protein normally found in the lungs and the
bloodstream. It helps protect the lungs from diseases such as
chronic obstructive pulmonary disease (COPD). Some people
do not make enough of this protein or they make an abnormal type of AAT, either of which can cause AAT deficiency. 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 types of abnormal AAT can also damage the liver. AAT deficiency is a
rare disorder and is the only known
genetic (inherited) factor that increases your chances
for developing emphysema.
Alpha-1 antitrypsin deficiency is caused
by a change, or mutation, in the
gene that tells the body how to make alpha-1
antitrypsin. There are many kinds of possible changes in this gene, but only a
few cause problems. To have this condition, you have to get the changed gene
from both parents.
If you receive only one changed gene, you do not have the disease but are a
carrier . 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. Some people who carry the changed gene may have very mild symptoms
of the deficiency.
Treatment for alpha-1 antitrypsin deficiency
involves avoiding substances—especially cigarette smoke—that could harm
your lungs. Also try to avoid dust and workplace chemicals. You also may want
to avoid alcohol because of the risk of liver damage. Exercise can improve your
stamina and overall health. You may also need medicines and other treatments to help you breathe easier and stay as healthy and strong as you can.
The only treatment available for the
lack of the protein is
plasma containing alpha-1 antitrypsin. This is usually
given only to people who have very low levels of AAT in their blood. It is not
clear that this treatment is any better than avoiding smoke and other
lung-damaging chemicals. The plasma is made from the blood of many donors and
is treated to reduce the chance of spreading an infectious disease. You
receive the plasma through an
IV, usually every 3 to 4 weeks for life.