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 (as cites) 
• 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 counseling 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 Breath Works program. 

You may also want to contact: 

• Alpha-1 Canada, a non-profit group that provides information, education and support to Canadians affected by Alpha-1 antitrypsin deficiency.
• The Alpha-1 Association, a U.S.-based non-profit group that aims  to identify people affected by Alpha-1  and to improve the quality of their lives through support, education, advocacy  and research.