Alpha-1 Antitrypsin Deficiency (AATD)

What Is AAT Deficiency?

Alpha-1 antitrypsin, also called AAT, is a protein made in the liver. Alpha-1 antitrypsin deficiency is a genetic condition where the liver does not produce sufficient amounts of alpha-1 antitrypsin to protect the lungs.

In newborns: alpha-1 antitrypsin deficiency 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.

AAT Deficiency and COPD

Approximately 80% of people with alpha-1 antitrypsin deficiency develop chronic obstructive pulmonary disease (specifically emphysema, a type of COPD) 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 those with AATD never develop significant lung disease, especially if they do not smoke tobacco.

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

Learn how we diagnose AATD at Temple >

Treatment Options

Although there is no cure for alpha-1 antitrypsin deficiency, our expert team of pulmonologists can treat the lung diseases that it causes. Treatment can include:

Augmentation therapy
Bronchodilators
Inhaled corticosteroid medications
Antibiotics
Flu and pneumococcal vaccines yearly
Surgery and other procedures

Get a detailed look at these available treatments and how we can help improve your well-being >

At Temple, we have been on the forefront of research on alpha-1 antitrypsin deficiency for many years. We offer new clinical trials that may help those affected with AAT deficiency.

Many Functions of Alpha-1 Antitrypsin

AAT circulates in the bloodstream and 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. When not adequately protected, this is when COPD can develop.

Research now suggests that alpha-1 antitrypsin has many other uses in addition to directly protecting the lungs:

Balancing the action of enzymes in the lungs
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.