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Many people associate chronic obstructive pulmonary disease (COPD) with exposure to tobacco smoke, and smoking is the primary cause of COPD. However, COPD can develop from other causes as well, including your genetics. A common form of genetic COPD is due to alpha-1 antitrypsin deficiency (AATD). 

Here, we answer some important questions you may have about alpha-1 antitrypsin deficiency and how it can lead to COPD.

1. What Is Alpha-1 Antitrypsin Deficiency?

AATD is a genetic disorder characterized by the abnormal production of alpha-1 antitrypsin (AAT) in the body. AAT is a protein that protects your body’s tissues from being damaged by infection-fighting cells in your immune system. When your body doesn’t produce enough AAT, infection-fighting cells mistakenly attack and destroy your own tissues. 

Alpha-1 antitrypsin deficiency can cause COPD by damaging lung tissues. If you develop lung disease from AATD, you may begin having symptoms anywhere between the ages of 30 to 60. Primary symptoms include shortness of breath, cough with phlegm, wheezing, sudden weight loss, fatigue, recurrent respiratory infections and rapid heartbeat upon standing up. 

2. How Is Alpha-1 Antitrypsin Deficiency Diagnosed?

In many cases, it’s a diagnosis of lung disease that leads to the detection of alpha-1 antitrypsin deficiency. If you present to your doctor’s office for lung symptoms like shortness of breath, fatigue or chronic cough, your doctor will likely order a spirometry test to measure your lung function. He or she may also take a chest X-ray or CT scan to assess your lungs for damage. 

Often, AATD-related COPD is initially diagnosed as asthma or smoking-related COPD. According to the Alpha-1 Foundation, approximately 3% of all people with COPD may have undetected AATD. The only way to determine AATD is through blood testing that will measure your alpha-1 antitrypsin levels and identify the abnormal genes. 

The World Health Organization (WHO) and the American Thoracic Society (ATS) recommend that all individuals with COPD get tested for AATD. 

3. If I Have AATD, Will I Develop Lung Disease?

Not necessarily. Many people with AATD live normal, healthy lives with no side effects. Several factors that increase your risk of developing COPD if you have AATD include:

  • Smoking cigarettes or exposure to secondhand smoke
  • Working in job environments with poor air quality from dust or chemicals, like construction or coal mining
  • A history of repeated lung infections like pneumonia 

4. What Are My Treatment Options for AATD-Related COPD?

COPD caused by AATD is treated with medications and inhalers that can help ease respiratory symptoms and manage inflammation. You may also benefit from a pulmonary rehab program, which combines exercises, education and counseling. 

For people with AATD-related COPD, lifestyle is an important part of your treatment plan. Exercising regularly, eating a balanced diet and maintaining a healthy weight are all essential to help you manage your symptoms. At Lung Health Institute, we offer our patients the Anti-Inflammatory Initiative™ (AI²™), which has dietary guidelines for COPD patients to help reduce full-body inflammation. 

5. Can Cellular Therapy Treat Alpha-1 Antitrypsin Lung Disease?

Cellular therapy does not treat alpha-1 antitrypsin deficiency, but it can treat COPD caused by AATD. Lung Health Institute’s treatment uses your body’s own cells to address the root cause of lung disease: chronic lung inflammation. Cellular therapy may be able to reduce inflammation in the lungs, prevent further damage to lung tissues and slow the progression of your condition. After treatment, our patients have reported fewer symptoms like shortness of breath and coughing, less fatigue and decreased need for supplemental oxygen. At 3 months following cellular therapy, 91.6% of our patients report a positive outcome.* 

If you are interested in learning more or scheduling a free consultation, contact a Lung Health Institute patient coordinator today.

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