Treatments for AAT Deficiency

If you have alpha-1 antitrypsin deficiency (AAT deficiency), there's treatment that can help you can feel better, live longer, and breathe easier.

Augmentation Therapy

There's only one specific treatment that actually targets COPD caused by AAT deficiency -- augmentation therapy. It's also called replacement therapy. It’s been around for 25 years, but it's now attracting more attention. 

It's used alongside the regular COPD treatments.  "Augmentation therapy for [AAT deficiency] seems to be very effective," says Robert A. Sandhaus, MD, PhD, clinical director of the Alpha-1 Foundation and professor of medicine at National Jewish Health in Denver. "I think it could change the prognosis for the condition."

If you have AAT deficiency, you don't have enough of the AAT protein that normally protects the lungs from damage. Augmentation therapy raises your levels of that protein.

You get an infusion through an IV tube into a vein in your arm. Augmentation therapy won't improve your breathing on the spot. But the extra AAT moves through your blood to your lungs and may slow down COPD damage. 


Side effects are usually mild. You may have a headache, muscle aches, or flu-like symptoms that last about a day.

The infusion takes about an hour. You need to get it every week, probably for the rest of your life. Usually, you would get it at a hospital or medical center, or you may be able to learn how to do it at home on your own.


How Well Does Augmentation Therapy Work?

There's debate about how well augmentation therapy works. Some studies show it can reduce further lung damage and help people with AAT deficiency live longer. Other studies have had less clear results.

Even so, the bulk of the evidence seems to show it helps. "We don't have the most rigorous evidence yet, but it seems that augmentation therapy can slow down the disease," says Norman Edelman, MD, chief medical officer of the American Lung Association.

Sandhaus is more positive. "I'm very confident it works," he says. Sandhaus is one of the authors of a new study of augmentation therapy. The results of the study will be presented at the American Thoracic Society International Conference in 2013. It was funded by CSL Behring.

Other Treatments for AAT Deficiency

Drugs to help with breathing. For breathing problems, the treatments given for COPD can help. These may include inhaled drugs called bronchodilators that open up the airways. Steroids can reduce the swelling in the lungs.

Antibiotics. AAT deficiency makes it more likely that a simple cold can cause a lung infection. Your doctor may prescribe antibiotics to head off problems.

Vaccinations.  Protect yourself from dangerous infections that could make your symptoms worse. Get your flu, pneumococcal, and hepatitis shots.

Oxygen. Home and portable systems allow you to breathe extra oxygen.

Taking Charge of Your Health

Medical treatment isn't the only answer. There's a lot you can do on your own to improve your health. 

Make lifestyle changes. "If you have [AAT deficiency] and you smoke, quitting is the single most important change you need to make," Edelman says. Smoking can speed up the damage to your lungs. If you live with a smoker, do whatever you can to get them to stop. Limit exposure to dust, chemical fumes, and pollution, too.


Work with an expert. AAT deficiency often doesn't get diagnosed. "You might be your doctor's first case," Sandhaus says. "That happens pretty often." If you want a second opinion or different treatment options, look for an AAT deficiency expert.

Keep up-to-date. Treatment is changing. Sandhaus believes that within 5 years, you may be able to get augmentation therapy through an inhaler, instead of by IV. Studies of different drugs, gene therapy, and other cutting-edge techniques could change the course of the disease.

Speak up for yourself. If you have concerns about your medical care, share those with your doctor. If you think that you might have AAT deficiency, ask your doctor about that. You can discuss whether testing is a reasonable option, or whether something else might be causing your symptoms.  

Sandhaus has received funding for clinical studies from CSL Behring, AstraZeneca, Grifols, and Kamada.

WebMD Feature Reviewed by James E. Gerace, MD on May 03, 2013



Alpha-1 Awareness UK: "Augmentation Therapy."

Alpha-1 Foundation: "Alpha-1 and Lung Disease," "Augmentation Therapy," "Cochrane Study Poorly Designed, Ignores Wealth of Data, Does Disservice to Rare Disease Patients, says Alpha-1 Foundation,"  "The Family that Tests Together."

American Lung Association: "Alpha-I-Antitrypsin Deficiency." 

American Thoracic Society: "What is Alpha-1 Antitrypsin Deficiency?"

Bob Campbell, Communications Director, Alpha-1 Foundation, Miami, FL.

Norman Edelman, MD, Chief Medical Officer, American Lung Association.

National Heart, Lung, and Blood Institute: "How Is Alpha-1 Antitrypsin Deficiency Treated?"

Robert A. Sandhaus, MD, PhD, Professor of Medicine, Director, Alpha-1 Program, National Jewish Health, Denver, CO; Clinical Director, Alpha-1 Foundation; Executive VP and Medical Director, AlphaNet, Miami, FL.

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