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Alpha-1 Antitrypsin Deficiency

Most people (approximately 80%) with AATD 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 AATD individuals never develop significant lung disease, especially if they don’t smoke tobacco.

In newborns, AATD 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.

AATD 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.

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

Alpha-1 Antitrypsin Function

AATD 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 AATD, COPD or emphysema can result.