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Alpha-1 antitrypsin deficiency |
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| Definition: | A deficiency of a protein produced in the liver 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: 12/2/2001
Reviewed By: Steven Kawut, M.D., Division of Pulmonary, Allergy, and Critical Care Medicine, Columbia University College of Physicians and Surgeons, New York City, NY. Review provided by VeriMed Healthcare Network.
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