What ages does alpha-1 antitrypsin deficency effect?
Alternative names Return to top AAT deficiency Definition Return to top 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. Causes, incidence, and risk factors Return to top 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. Symptoms Return to top * Shortness of breath with and without exertion * Unintentional weight loss * Wheezing Additional symptoms that may be associated with emphysema or cirrhosis include the following: * Abnormal breathing pattern (exhalation takes more than twice as long as inspiration) * Agitation * Ankle, fe
