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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.