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Alpha-1 antitrypsin deficiency
Alternative namesAAT deficiency
DefinitionAlpha-1 antitrypsin deficiency is a lack of a liver protein that blocks the destructive effects of certain enzymes. The condition may lead to emphysema and liver disease .
Causes, incidence, and risk factorsAlpha-1 antitrypsin deficiency results from a genetic defect. The mechanism that causes associated liver disease and emphysema in some people with this deficiency is not known, however some evidence suggests that it may be related to inflammation. Approximately 75% of adults with severe deficiency will develop emphysema, which often begins before 40 years of age. Smoking can increase risk.
Signs and testsA physical examination may reveal a barrel-shaped chest. Listening to the chest with a stethoscope may reveal wheezing, crackles, or decreased breath sounds. The following tests may also help with diagnosis:
Replacement (augmentation) therapy with the missing AAT protein is available. However, it is not known how effective this is once disease has developed or which people would benefit most. Certainly, quitting smoking is crucial.
Other treatments include bronchodilators and prompt antibiotics for upper respiratory tract infections.
Expectations (prognosis)Some people with this deficiency will not develop liver or lung disease. Emphysema and cirrhosis, however, are both progressive diseases that can kill.
Calling your health care providerCall your health care provider if you develop symptoms of alpha-1 antitrypsin deficiency.
Update Date: 5/7/2003David A. Kaufman, M.D., Pulmonary & Critical Care Medicine, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
Last updated: Tue, 06 Jan 2009 00:20:03 GMT