Alpha-1 antitrypsin (AAT) deficiency is a condition in which the body does not make enough of a protein that protects the lungs and liver from damage. The condition can lead to emphysema and liver disease.
Alpha-1 antitrypsin (AAT) is a type of protein called a "protease inhibitor." It is made in the liver and it works to protect the lungs and liver.
AAT deficiency means there is not enough of this protein in the body. It is caused by a genetic defect. The condition is most common among Europeans and North Americans of European descent.
Studies show that AAT deficiency may be more common than was once thought.
Adults with severe deficiency will develop emphysema, often before age 40. Smoking can increase the risk of emphysema. Other patients can have higher levels of AAT in their blood, and therefore have a less severe condition.
Persons with this deficiency may also develop liver disease.
A physical examination may reveal a barrel-shaped chest, wheezing, or decreased breath sounds. The following tests may also help with diagnosis:
Your doctor may suspect you of having this condition if you develop:
Treatment for AAT deficiency involves replacing the missing AAT protein. The protein is given through a vein each week. However, it is not yet known who may benefit from such therapy.
Quitting smoking is crucial.
Other treatments for emphysema and cirrhosis are also used.
Some people with this deficiency will not develop liver or lung disease. However, emphysema and cirrhosis can be life threatening.
Call your health care provider if you develop symptoms of AAT deficiency.
Anthonisen N. Chronic obstructive pulmonary disease. In: Goldman L, Ausiello D, eds. Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier;2007:chap 88.
Kowdley KV. Inherited and metabolic hepatic disorders. In: Goldman L, Ausiello D, eds. Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier;2007:chap 154.