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Alpha-1 Antitrypsin Deficiency (AATD)

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.

Alpha-1 antitrypsin, also called AAT, is a protein made in the liver. Research now suggests that AAT has many other uses in addition to directly protecting the lungs. One of these functions is to balance the action of enzymes in the lungs. Others include playing an important part in regulating patients’ immune systems, regulating inflammation, and modulating cell death. All these secondary functions of AAT contribute in their own ways to the lung maintenance program that keeps the lungs safe in spite of damage from pollutants, infections, and cigarette smoke.

Ready for an Appointment?

If you're experiencing signs or symptoms of alpha-1 antitrypsin deficiency, schedule an appointment or call 800-TEMPLE-MED (800-836-7536) today.

Learn more about our doctors and care team who diagnose and treat alpha-1 antitrypsin deficiency.