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Ency. home > Disease > A > Alpha-1 antitrypsin deficiency

Alpha-1 antitrypsin deficiency    See images

Overview | Symptoms | Treatment | Prevention

Alternative names:

AAT deficiency

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.

Causes and Risks

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.

Ency. home > Disease > A > Alpha-1 antitrypsin deficiency


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