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Alpha-1 antitrypsin deficiency

Definition:

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 , and in rare cases, skin disease.

Alternative Names:

AAT deficiency

Causes, incidence, and risk factors:

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.

Studies now show that Alpha-1 antitrypsin deficiency may be more common than once thought. Approximately 75% of adults with severe deficiency will develop emphysema, which often begins before 40 years of age. Smoking can increase the risk.

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.

Lungs

Liver anatomy

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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