Alpha-1 Antitrypsin (AAT) Deficiency

Overview

What is it?

Alpha-1 antitrypsin (AAT) is a protein normally found in your lungs, liver, and blood. It helps protect tissues in your body from damage.

Some people do not make enough AAT in their bodies. Some people make abnormal AAT. Both of these problems are called AAT deficiency. AAT deficiency is passed down by genes that you inherit from your family. AAT deficiency is a common genetic problem.

People who have AAT deficiency may get emphysema at a young age, such as 30 or 40 years old, especially if they smoke. Some people get liver or skin problems.

What puts you at risk?

AAT deficiency is a genetic condition. To get the disease, you must inherit the changed (mutated) genes from your parents. Your parents may not know they have the changed genes.

If a person inherits changed genes from both parents, the person is at a higher risk of lung problems. They may also be at higher risk of liver or skin problems.

If a person inherits the changed gene from only one parent, the person may not have health problems from the changed gene. But they will be a carrier of the disease. Carriers may pass the changed gene on to their children.

Who should be tested?

An AAT deficiency test measures the level of AAT in the blood. It can also check for abnormal AAT proteins or changed AAT genes. You might have this test if you:

• Have been diagnosed with emphysema or COPD.
• Have a disease that could have been caused by AAT deficiency. Examples include unexplained liver disease or inflammation of the fat under the skin (necrotizing panniculitis).
• Have a close family member, such as a parent or sibling, who has AAT deficiency.

How is it treated?

It is extremely important that you do not smoke if you have an AAT deficiency. Smokers with this condition may suffer devastating disease at a young age. People with this condition who have never smoked usually do not have significant symptoms at any age.

Treatment for COPD may include medicines to help you breathe easier. It may also include pulmonary rehabilitation. This means learning exercise, eating, and breathing tips and other ways to help yourself stay as healthy and strong as you can. And your doctor may suggest that you have injections of man-made alpha-1 antitrypsin protein (also called an alpha-1 proteinase inhibitor) that has been obtained from human plasma. Examples include Aralast, Prolastin, and Zemaira. To be considered for this treatment, you must meet the following guidelines:

• Your blood levels of the alpha-1 antitrypsin enzyme are less than 11 µmol/L (micromoles per liter).
• DNA testing shows that your body does not produce enough of the enzyme or produces an enzyme that does not work properly.
• You do not smoke or have stopped smoking.
• You have difficulty breathing because of COPD or emphysema.

Injections of replacement alpha-1 antitrypsin are given either weekly or every 2 to 4 weeks. Benefits of the therapy are not clear at this time.

How can you care for yourself at home?

To stay healthy

• If you smoke, try to quit or cut back as much as you can. Not smoking is the most important step you can take to prevent lung problems. It is never too late to stop. If you need help quitting, talk to your doctor about stop-smoking programs and medicines. These can increase your chances of quitting for good.
• Try to avoid infections such as COVID-19, colds, and the flu. Wash your hands often. You may want to wear a mask when you go to public indoor spaces. Try to avoid sick people.
• Stay up to date on your vaccines. Talk to your doctor about which vaccines are right for you. Ask your doctor if you should get hepatitis vaccines.
• Try to avoid things that could hurt your lungs. These include chemical fumes, factory dust, soot, and air pollution. Talk to your doctor about ways to protect yourself if you are exposed to substances that irritate your lungs at home or at work.
• Try to avoid getting infections that could hurt your liver. Practice safer sex. Ask your doctor about PrEP. If you inject drugs, don't share needles or injection supplies.
• If you drink alcohol, try to quit. It can hurt your liver. Talk to your doctor if you need help.

Medicines

• Take your medicines exactly as prescribed. Call your doctor if you think you are having a problem with your medicine.

Activity

• Be active. For many people, walking is a good choice. Or you may want to swim, bike, or do other activities. Try to be active every day.
• Be active. Talk to your doctor about what type, amount, and level of exercise is safe for you.

Eating healthy

• Eat healthy foods. These foods include vegetables, fruits, nuts, beans, lean meat, fish, and whole grains.
• Limit sodium and sugar.

Mental health

• Talk to your family or friends or a therapist about your feelings. Some people feel frightened, angry, hopeless, helpless, and even guilty. Talking openly about feelings may help you cope. If these feelings last, talk to your doctor.