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Alpha-1 antitrypsin deficiency

• Overview
• Symptoms
• Treatment

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. 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.

References:

Perlmutter, DH. Alpha-1-antitrypsin deficiency: diagnosis and treatment. Clin Liver Dis . November 2004;8:839-859.

Stoller JK, Tomashefski J, Crystal RG, et al. Mortality in individuals with severe deficiency of alpha-1-antitrypsin: Findings from the National Heart, Lung, and Blood Institute Registry. Chest . April 2005;127:1196-1204.

• Review Date: 3/1/2007
• Reviewed By: David A. Kaufman, M.D., Assistant Professor, Division of Pulmonary Medicine, Mount Sinai School of Medicine, New York, NY. Review provided by VeriMed Healthcare Network.

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