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Alpha-1 antitrypsin deficiency |
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| Definition: | Alpha-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.
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| Alternative Names: | AAT deficiency
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| Causes, incidence, and risk factors: | Alpha-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.
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Review Date: 5/7/2003
Reviewed By: David A. Kaufman, M.D., Pulmonary & Critical Care Medicine, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
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