Alpha-1 antitrypsin deficiency

Injury	Disease	Nutrition	Poison

Symptoms	Surgery	Test	Special Topic

Lungs

Liver anatomy

Overview

Symptoms

Treatment

Prevention

Alpha-1 antitrypsin deficiency

Alternative Names:

AAT deficiency

Treatment:

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. Lung transplantation may be an option for those who develop end-stage lung disease. In addition, genetic testing of relatives may be recommended.

Expectations (prognosis):

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

Complications:

Emphysema
Cirrhosis

Calling your health care provider:

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

Review Date: 2/1/2005
Reviewed By: Allen J. Blaivas, D.O., Division of Pulmonary and Critical Care Medicine, UMDNJ-New Jersey Medical School, Newark, NJ. Review provided by VeriMed Healthcare Network.

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