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Alpha-1 antitrypsin deficiency

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Contents of this page:

Illustrations

Lungs
Lungs
Liver anatomy
Liver anatomy

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

Additional symptoms that may be associated with emphysema or cirrhosis include the following:

Signs and tests    Return to top

A 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:

Treatment    Return to top

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)    Return to top

Some people with this deficiency will not develop liver or lung disease. Emphysema and cirrhosis, however, are both progressive diseases that can kill.

Complications    Return to top

Calling your health care provider    Return to top

Call your health care provider if you develop symptoms of alpha-1 antitrypsin deficiency.

Update Date: 5/7/2003

Updated 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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