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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 cellular 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.


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.





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