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 >Lung diseases>Diseases A–Z>Alpha–1 antitrypsin deficiency (also called AAT Deficiency or Alpha-1) 
 

Diseases A–Z

Alpha–1 antitrypsin deficiency (also called AAT Deficiency or Alpha-1)

Cause | Signs & symptoms | Treatment

What is it?

Alpha-1 antitrypsin deficiency is an inherited disorder that can cause lung or liver disease. Alpha-1 is the name of a protein. Deficiency means there is not enough of it.

Many people with alpha-1 can develop emphysema (also known as COPD), a long-term lung disease.

What causes alpha-1?

Alpha-1 deficiency is inherited (you can get the genes from your parents).

Normally, people's lungs are protected by the protein alpha-1 antitrypsin. This protein helps prevent lung damage caused by common sicknesses and air pollution, especially tobacco smoke.

People born with alpha-1 antitrypsin deficiency don't have enough of the alpha-1 protein protecting their lungs. This means their lungs can be easily damaged by even a small amount of sickness, air pollution, smoking or second-hand smoke. Over many years, the lung damage can lead to a disease called emphysema.

Is alpha-1 antitrypsin deficiency contagious — can I catch it from others?

No, alpha-1 is not contagious. It can only be passed on to kids from their parents, through genetic inheritance.

Signs and symptoms of alpha-1 deficiency

Many people don't realize they have alpha-1 antitrypsin deficiency until they notice the signs and symptoms of emphysema. Nowadays, emphysema is known as COPD, short for chronic obstructive pulmonary disease. Emphysema/COPD is a chronic (long-term) lung disease that involves damages to the air sacs in people's lungs. The lung's air sacs loose their stretchiness, which traps air in the air sacs and makes it hard to take in new air. Most people get emphysema from smoking.

Signs and symptoms of emphysema (also known as COPD)
  • shortness of breath — feeling like you can't get your breath out
  • wheezing
  • feeling tired (fatigue)
  • losing weight without trying
Other signs and symptoms of alpha-1
  • eyes and skin turning yellow (jaundice)
  • swelling of the abdomen (ascites)
  • gastrointestinal bleeding (from large veins in the esophagus or stomach)
  • unexplained liver problems or elevated liver enzymes
How is alpha-1 diagnosed?

Doctors can diagnose alpha-1 using a simple blood test or a cheek swab test.

Treatment for alpha-1

There is no cure from alpha-1 antirypsin deficiency, but it is possible to slow down the disease. Here's how:

  • If you don't smoke, don't start. If you do smoke, quit — it's the best thing you can do to slow down the disease. Find out more about how to quit smoking. Also, stay away from second-hand smoke.
  • Avoid air pollution, smog and dust.
  • If you have developed emphysema/COPD, get treatment; this may include medication, oxygen or pulmonary rehabilitation.
  • Get regular vaccines (shots) including flu, pneumonia, hepatitis A and hepatitis B
  • Replacement/augmentation therapy. This once-a-week therapy is designed to increase alpha-1 antitrypsin in the body. It involves an injection of a protein made from specially prepared human blood plasma. The injections must be taken every week for the rest of a person's life to keep having an effect.

    There is some medical evidence that augmentation therapy helps people with alpha-1 antitrypsin deficiency, but the therapy has not been fully studied. Augmentation therapy can be very expensive.

What can I expect if I have alpha-1 antitrypsin deficiency?

It is possible to slow down the disease and make it easier to live with the symptoms once you have quit smoking. Going to a pulmonary rehabilitation program will help; this is a specialized exercise and disease management program designed for people with long-term lung disease. It's also important to know how to recognize and treat COPD flare-ups, times when your symptoms get worse. Your doctor can help you learn the warning signs of flare-ups and know how to respond to them.

What else do I need to know about alpha-1?

Because alpha-1 runs in families, it's important for family members who might be affected to get tested for the disorder. That way people can know about their risks and get doctor's advice on how to reduce the risks. Ask you doctor about genetic counselling and testing for family members.

Smoking is the number one thing that makes alpha-1 worse. It is very important that people who have alpha-1 and those near them to stop smoking and avoid second-hand smoke. Find out more about how to quit smoking and how to help others quit smoking.

Where can I get more information on alpha-1 antitrypsin deficiency?

The Lung Association supports people with emphysema/COPD through the BreathWorks program. If you or someone you know has emphsyema/COPD, you can get free information by calling The Lung Association's free BreathWorks COPD Helpline: 1-866-717-2673.

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