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
AAT deficiency; Alpha-1 protease deficiency
Causes, incidence, and risk factors
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
Persons with this deficiency may also develop liver disease.
Shortness of breathwith and without exertion, and other symptoms of chronic obstructive pulmonary disease(COPD)
- Symptoms of severe liver disease (
weight loss Wheezing
Signs and tests
A physical examination may reveal a barrel-shaped chest, wheezing, or decreased breath sounds. The following tests may also help with diagnosis:
Alpha-1 antitrypsinblood test Arterial blood gases Chest x-ray CT scanof the chest
- Genetic testing
- Lung function test
Your doctor may suspect you of having this condition if you develop:
Emphysema before age 45
Emphysema but have never smoked or been exposed to toxins
Emphysema and you have a family history of the condition
Liver disease or hepatitis and no other cause can be found
Liver disease or hepatitis and you have a family history of liver disease
Treatment for AAT deficiency involves replacing the missing AAT protein. The protein is given through a vein each week. However, it is not yet well known who may benefit from such therapy.
If you smoke, you need to quit.
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.
- Cirrhosis or liver failure
- Liver cancer
Calling your health care provider
Call your health care provider if you develop symptoms of AAT deficiency.