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Alpha-1 Antitrypsin Deficiency

Alpha-1 Antitrypsin deficiency is a genetic condition where the body, more specifically the liver, does not produce sufficient amounts of alpha-1 antitrypsin (A1ATD).

A1ATD circulates in the bloodstream; it protects the body from damage that can occur when enzymes from white blood cells attack normal tissues.

The lung is especially vulnerable to tissue damage and when not adequately protected by A1ATD, COPD or emphysema can result.

Most people (approximately 80%) with A1ATD develop COPD or emphysema at some time in their life. Nonsmokers usually have the first symptoms of COPD in their early to mid-40s; smokers develop symptoms earlier, in their early to mid-30s. Approximately 15-20% of A1ATD individuals never develop significant lung disease, especially if they don’t smoke tobacco.

In newborns, A1ATD causes prolonged jaundice and sometimes perinatal hepatitis that usually resolves by itself. In adults, the liver can be affected, causing fibrosis and sometimes cirrhosis, and in rare cases, malignant hepatoma.

A1ATD associated COPD or emphysema cannot easily be distinguished by clinical criteria alone, from emphysema caused by cigarette smoking, and other airborne exposures. Therefore, testing is important.