Causes Alpha-1 antitrypsin (AAT) is a type of protein called a "protease inhibitor." It is made in the liver and it works to protect the lungs and liver. AAT deficiency means there is not enough of this protein in the body. It is caused by a genetic defect. The condition is most common among Europeans and North Americans of European descent. Studies show that AAT deficiency may be more common than was once thought. Adults with severe deficiency will develop emphysema , often before age 40. Smok
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Symptoms Shortness of breath with and without exertion, and other symptoms of chronic obstructive pulmonary disease (COPD); Symptoms of severe liver disease ( cirrhosis ); Unintentional weight loss ; Wheezing ;
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Treatment Treatment for AAT deficiency involves replacing the missing AAT protein. The protein is given through a vein each week. However, it is not yet known who may benefit from such therapy. Quitting smoking is crucial. Other treatments for emphysema and cirrhosis are also used.
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