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Alpha-1 Antitrypsin Deficiency and COPD

10 Feb 2016
| Under COPD, Disease Education, Lung Disease, Medical | Posted by | 12 Comments
Alpha-1 Antitrypsin Deficiency and COPD

How it’s tied to lung disease and what you can do about it…

For many who’ve been diagnosed with chronic obstructive pulmonary disease (COPD) or other lung diseases, the first question can often be “how?” For many, the origin of their lung disease will stem from smoking, second-hand smoke or exposure to harmful respiratory conditions. For a select few, lung disease can develop without ever picking up a cigarette– the cause of which stems from an acute deficiency of the protein alpha-1 antitrypsin.

Though this is a technical subject, with your health in mind, the Lung Institute (a Florida-based Cellular Clinic) is here to parse through the details of this complex deficiency and give you the information you need to stay healthy. But first of all…

What Is Alpha-1 Antitrypsin Deficiency?

Alpha-1 Antitrypsin Deficiency and COPD

Alpha-1 Antitrypsin Deficiency (AATD) is an inherited disorder that can raise your risk for lung and liver disease, particularly if you smoke. Symptoms of lung disease stemming from AATD can first develop between ages 20 and 50, and can often lead to emphysema, which is caused by damage to the small air sacs (alveoli) in the lungs. If you have severe AAT deficiency, smoking can shorten your life by as much as 20 years. Today roughly 1 in 2500 people have AATD and up to 3% of all people diagnosed with COPD may have undetected alpha-1. This deficiency largely seems to affect those of European ancestry.

The problem with alpha-1 antitrypsin deficiency is that many individuals with AATD are likely undiagnosed, particularly for people with COPD because the symptoms can often be confused with asthma. However, it remains that some individuals with severe deficiency of AATD will never develop emphysema and have a normal life, especially if they never smoke.

Now, here’s the complicated part…

How Does it Happen?

Alpha-1 Antitrypsin Deficiency and COPD

Alpha-1 antitrypsin deficiency occurs by mutations in the gene SERPINA1. This gene is responsible for providing the instructions for making the protein alpha-1 antitrypsin (found in the liver), which protects the body from a powerful enzyme called neutrophil elastase.

This enzyme is released from white blood cells to fight infection but can also attack normal tissues (in this case, the lungs) if it is not tightly controlled by alpha-1 antitrypsin. The mutations of the SERPINA1 gene cause a shortage of alpha-1 antitrypsin or an abnormal form of the protein that can’t control neutrophil elastase. With the neutrophil elastase out of control, it begins to destroy alveoli and cause lung disease.

The mutations within the SERPINA1 gene can be categorized by the alleles M, S, and Z.

  • M alleles produce normal levels of Alpha-1 Antitrypsin
  • S Alleles produce moderately low levels of Alpha-1 Antitrypsin
  • Z Alleles produce very little Alpha-1 Antitrypsin

Within those genetic combinations, it’s estimated that 161 million people have one copy of the S or Z allele and one copy of the M allele in each cell (MS or MZ). However, people with MZ alleles have a slightly increased risk of impaired lung or liver function. Individuals with the Z allele (ZZ) in each cell are likely to have alpha-1 antitrypsin deficiency (link). It’s currently estimated that there are at least 100,000 people with Alpha-1 (ZZ) in the United States, so the question remains…

What Can I Do About It?

Alpha-1 Antitrypsin Deficiency and COPD

Due to the genetic nature of the deficiency, the only way to test for AATD is through the blood. Upon discovering the predisposition to the deficiency, lifestyle changes can be prescribed (quitting smoking, etc.) as well gene therapy.

Alpha-1 antitrypsin deficiency may create a larger susceptibility to lung diseases such as COPD, but there is hope for those born with this genetic predisposition. Although the lung diseases caused by this deficiency cannot be reversed, it’s possible to address their symptoms and development through stem cell therapy and continued cellular research.

As the scientific community continues to put their best minds to the task of solving the problems of the human body, the Lung Institute will continue to bring these advancements to the public with the hope of bettering quality of life for those who need it most.

If you’re looking to make a profound change in your life or the life of someone you love, don’t wait. If you or a loved one suffers from COPD, or another lung disease, the Lung Institute may be able to help with a variety of cellular treatment options. Contact us at (800) 729-3065 today to find out if you qualify for cellular therapy.

Affected by Alpha-1 Antitrypsin Deficiency? We want to hear from you. Share your thoughts and comments on Alpha-1 Antitrypsin Deficiency and COPD below.


  1. Lung Institute

    8 months ago


    Thank you for your message. Only your doctor will be able to offer a prognosis. We would recommend that you talk with one of our patient coordinators. You will be able to ask specific questions and they will either have answers or do their best to find the answers.

    We’re happy to talk with you one-on-one about your questions and concerns regarding cellular treatment, candidacy and cost, so feel free to contact us at (855) 313-1149. We look forward to hearing from you soon.

    Kind regards,

    The Lung Institute

  2. Kara

    10 months ago

    I am an alpha1 MZ and was DiagnOsed 2 years ago. Im currently on pRolastin c infusions weekly and 2 inhalers daily. Have you treated any others like me and what is prognosis

  3. Phoebe

    10 months ago

    Hi Harold,

    First and foremost, we’re sorry to hear about the challenges you have faced with chronic lung disease. If you’re noticing changes in your lung health or symptoms, it’s important to talk with your doctor. Because your doctor knows you and your health situation well, he or she will be able to best guide you. We’re happy to answer your questions about cellular therapy for chronic lung diseases, so feel free to contact us at (855) 313-1149.

    Best Regards,

    The Lung Institute

  4. Harold Phillips

    10 months ago

    I worked in the Coal Mines over 23 years and I got Disabled in in the mines and didn’t find out later I had Alpha-1 Antitrypsin Deficiency. 2.5 um ,ZZ. I qualified for Federal Black lung Benefits in 2012 and after receiving benefits over four years in 2016 I got a letter saying my benefits was Denied because one Company Doctor said in Depositions because I had Alpha-1 Antitrypsin Deficiency my lungs would be the same if I had never set foot in the Coal Mines and also said I had a brother that died with the same condition which is a lie because all my siblings are still living but they statement swayed the judge. Now I have an Appeal and I need something to show the judge that coal mining caused my lungs too be bad. I am on Oxygen 24/7 and been on prolastin AUGMENTATION therapy. “PLEASE help me”

  5. Matt

    1 year ago

    Thank you for your post, Kautreena.
    Remember, it’s never too late to quit smoking. Click here to view our smoking cessation guide. Please let us know if you have any questions. Thanks again and have a great day.

  6. Phoebe

    1 year ago

    Dear Kautreena,

    Thanks for your comment and for sharing some of your story with us. We’re sorry to hear about the challenges you have been facing with alpha-1 antitrypsin deficiency and acute bronchitis. If you notice changes to your symptoms, breathing or overall health, it’s important to see your doctor as soon as possible.

    Kind Regards,

    The Lung Institute

  7. Kautreena

    1 year ago

    This is a wonderful and informative read,for I am an Alpha 1 zz and acute broncitis sufferer. I just read these articals and dream, because I have tried to quit smoking since I was diagnosed in 2004 but I just can’t seem to shake the habit. All, I can do is sit look at the computer and smoke, because it is hard to breath just talking on the phone. I ware oxygen almost all the time now, and wow the pills from prednizone, to effexor, to meteproprolo, to nitro quick, and so on, to all the inhalers, sipriva, advair, handheld, to nibulizers, I have it all, and just because I smoke, I am thrown away to die. So, do as this artical says, get checked for Alpha 1 and for COPD and if you have more will power than me Please stop smoking.

  8. PB

    1 year ago

    Dear David,

    Thanks for your comment. We recommend contacting your patient coordinator to discus your questions, so feel free to contact your patient coordinator by calling (855) 313-1149. We look forward to hearing from you soon.

    Kind Regards,

    The Lung Institute

  9. DAVID

    1 year ago


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  12. Very informative article which helps those who haven’t reached the postion of COPD ,GET CHECKED ,accept the doctors evaluation and then learn more about the treatments at LUNG INSTITUTE. ….

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