How Is Alpha-1 Antitrypsin Deficiency Treated?

Alpha-1 antitrypsin deficiency has no cure. However, the lung diseases associated with this inherited condition have many treatments. Most of these treatments are the same as the ones used for a lung disease called chronic obstructive pulmonary disease.

 

If you have symptoms related to AAT deficiency, your doctor may recommend:

 

Augmentation therapy is a treatment only given to people who have AAT-related lung diseases. This therapy involves getting infusions of the AAT protein. This raises the level of the protein in your blood and lungs.

 

Not enough research has been done to show whether this therapy works. However, some researchers suggest that this therapy may slow the development of AAT deficiency in people who don't have severe disease.

 

People who have AAT deficiency and develop related liver or skin diseases will be referred to doctors who treat those diseases.

 

Future Treatments

Researchers are working on possible treatments that will target the altered AAT genes and replace them with healthy genes. These treatments are in early stages of development.

 

Researchers also are studying therapies that will allow the misshapen AAT proteins to be released from the liver into the bloodstream. They’re also studying a type of augmentation therapy in which the AAT protein is inhaled instead of injected into a vein.

 

If you're interested, talk with your doctor about whether any clinical trials of new AAT treatments might benefit you.

 

How Can Alpha-1 Antitrypsin Deficiency Be Prevented?

You can't prevent alpha-1 antitrypsin deficiency because the condition is inherited (passed from parents to children through the genes). If you inherit two altered AAT genes, you’ll have AAT deficiency. Even so, you may never develop one of the diseases related to the condition.

 

You can take steps to prevent or delay the lung diseases related to AAT deficiency.

 

If you have a lung disease related to AAT deficiency, ask your doctor whether augmentation therapy might benefit you. This is a treatment in which you receive infusions of AAT protein. This therapy raises the level of the AAT protein in your blood and lungs.

 

Living With Alpha-1 Antitrypsin Deficiency

People who have alpha-1 antitrypsin deficiency don't always develop serious lung or liver diseases. This means that you can have AAT deficiency and not even know it.

If you already know you have AAT deficiency, you probably also have a related lung or liver disease. Ongoing medical care and lifestyle changes can help you manage your health.

 

Ongoing Medical Care 

If you have AAT deficiency, ongoing medical care is important. Talk with your doctor about how often you should schedule followup visits.

 

Take all of your medicines as prescribed and follow your treatment plan. Get flu and pneumococcus vaccines to protect you from illnesses that may worsen your condition.

 

Get treatment right away for any breathing problems. If treatment includes pulmonary rehabilitation, work with your health care team to learn how to manage your condition and function at your best.

 

Quit Smoking and Avoid Lung Irritants

If you smoke, quit. If you don’t smoke, don’t start. Smoking is the leading risk factor for lung disease. Talk with your doctor about programs and products that can help you quit.

 

Also, try to avoid secondhand smoke and other lung irritants, such as dust, fumes, or toxins. Check your living and working spaces for things that may irritate your lungs. Examples include flower and tree pollen, ash, allergens, air pollution, wood burning stoves, paint fumes, and fumes from cleaning products and other household items.

 

Advise your children to avoid smoking and to stay away from places where they might inhale irritants or toxins. Because AAT deficiency is inherited, your children may have the condition or carry the gene for it. They should do whatever they can to reduce their risk of getting serious lung diseases.

 

Follow a Healthy Diet

A healthy diet is an important part of a healthy lifestyle. A healthy diet includes a variety of fruits, vegetables, and whole grains.

 

A healthy diet also includes lean meats, poultry, fish, beans, and fat-free or low-fat milk or milk products. A healthy diet is low in saturated fat, trans fat, cholesterol, sodium (salt), and added sugar. Also, talk with your doctor about whether it’s safe for you to drink alcohol.

 

Reduce Stress

Learning how to manage stress, relax, and cope with problems can improve your emotional and physical health. Relaxation techniques - such as meditation, yoga, breathing exercises, and muscle relaxation - can help you cope with stress.

 

Emotional Issues and Support

Living with AAT deficiency may cause fear, anxiety, depression, and stress. It’s important to talk about how you feel with your health care team. Talking to a professional counselor also can help. If you’re feeling very depressed, your doctor may recommend medicines or other treatments that can improve your quality of life.

 

Joining a patient support group may help you adjust to living with AAT deficiency. You can see how other people who have the same symptoms have coped with them. Talk with your doctor about local support groups or check with an area medical center.

 

Support from family and friends also can help relieve stress and anxiety. Let your loved ones know how you feel and what they can do to help you.

 

 

"Strength does not come from physical capacity. It comes from an indomitable will."