Alpha-1 antitrypsin deficiency (Alpha-1) is a rare genetic condition that can significantly affect lung and liver health. If you’re living with Alpha-1, you may know that not many people outside of the Alpha-1 community are knowledgeable about this condition. Beyond advocacy work, simply sharing your knowledge and personal experience is a powerful way to significantly raise awareness, help others get diagnosed earlier, and move the Alpha-1 community closer to a cure. Read on to learn how to spread the word and help others understand Alpha-1.  

1. Make Sure You Understand Alpha-1

Having a solid grasp of how Alpha-1 works will make communicating with others about the condition much easier. Here is a quick refresher all about how Alpha-1 affects those who have it:

Alpha-1 antitrypsin deficiency (Alpha-1) is a genetic condition where the body doesn’t produce enough alpha-1 antitrypsin (AAT), a protein manufactured in the liver that helps protect the lungs from damage.

AAT’s main job is to neutralize neutrophil elastase, an enzyme released by white blood cells (neutrophils) during inflammation. Neutrophil elastase breaks down proteins as part of the immune response, but too much of it can damage lung tissue — especially the elastic fibers needed for breathing. In a healthy individual, AAT binds to and neutralizes neutrophil elastase, preventing it from destroying healthy lung tissue. However, when AAT is deficient or not working, as is the case in Alpha-1, it can result in damage to the lungs and liver:

  • Lung damage: In the lungs, neutrophil elastase can break down the tissue that supports the lungs’ structure, leading to diseases like chronic obstructive pulmonary disease (COPD) or emphysema. This damage can cause breathing problems, and it’s especially noticeable in people who smoke or have a history of lung problems due to environmental/lifestyle factors.
  • Liver damage: In the liver, the body’s inability to clear the misfolded AAT protein can cause it to accumulate inside liver cells. This buildup can lead to inflammation, liver scarring (cirrhosis), or liver disease. In some cases, it can lead to liver cancer.

Alpha-1 is typically diagnosed through genetic testing and blood tests that measure AAT levels, and treatment might involve managing lung and liver health, along with lifestyle changes (like not smoking), and sometimes therapies like AAT augmentation therapy.

Fast Facts About Alpha-1: 

  • Alpha-1 antitrypsin deficiency, or Alpha-1, is one of the most common serious genetic conditions worldwide.
  • Alpha-1 is the leading genetic cause of COPD.
  • Alpha-1 can cause severe lung and/or liver disease and is a leading reason for lung transplantation in adults and liver transplantation in young children.
  • An estimated 100,000 Americans have the condition, yet only 10-15% have been accurately diagnosed. As such, Alpha-1 is characterized as a rare condition.

2. Share Your Personal Experiences 

As an individual living with Alpha-1, sharing your knowledge and experiences can significantly raise awareness and foster understanding. Personal stories can humanize complex medical information. Discussing your journey, from diagnosis to management, can help others relate and understand the impact of Alpha-1.​

Consider developing a personal “elevator pitch” that explains your journey with Alpha-1 and share your story with relatives, friends, or your community.

3.  Use Your Voice on Social Media 

You can use social media to spread the word about Alpha-1 by sharing your story and sharing original content about Alpha-1 or reposting information from reputable sources like AlphaNet or the Alpha-1 Foundation. Learn more about credible resources for Alpha-1 information below.

4. Always Utilize Credible Resources

If people want to know more about Alpha-1, make sure you are able to direct them to reputable sources that provide comprehensive information on Alpha-1.

One of the most reliable sources when it comes to information about Alpha-1 is AlphaNet’s Big Fat Reference Guide (BFRG) The BFRG is the most comprehensive guide to learning about and managing Alpha-1 available today. The BFRG was developed by AlphaNet’s expert Medical Team alongside Alpha-1 patients, physicians, caregivers, and community members. The BFRG is updated on a regular basis and contains information about genetics, risk factors, treatment options, and lifestyle recommendations specifically for those with Alpha-1.

Anyone can access the BFRG free of charge by visiting bfrg.alphanet.org. AlphaNet subscribers can access the BFRG through the “BFRG” menu item at the top of the Subscriber Portal homepage.

Accessing the BFRG will also grant you access the AlphaNet’s Skinny Little Reference Guides which are standalone PDFs containing some of the most popular BFRG content.

Other reputable sources for Alpha-1 information include:

  • Alpha-1 Foundation
  • American Lung Association
  • National Jewish Health
  • Cleveland Clinic

5. Promote Early Diagnosis and Family Testing

Whenever you have the opportunity, encourage individuals, especially those with a family history of lung or liver disease, to undergo genetic testing. Because Alpha-1 is genetic, family testing is one of the most important ways to help identify other Alphas, so encourage family members to be screened if possible. Early detection can lead to better management and outcomes.​

6. Advocate for Healthy Lifestyle Habits

Highlight the importance of lifestyle changes in managing Alpha-1 by leading by example:​

  • Avoid smoking and secondhand smoke: Smoking accelerates lung damage in individuals with Alpha-1.​
  • Limit alcohol consumption: Excessive alcohol can exacerbate liver damage.​
  • Stay updated with vaccinations: Vaccinations against respiratory infections and liver diseases can prevent complications.​
  • Engage in regular exercise: Physical activity can improve lung capacity and overall health.​
  • Maintain regular health checkups, including dental visits.

7. Support Research and Advocacy 

Participate in or support organizations dedicated to Alpha-1 research and advocacy. Your involvement can contribute to advancements in treatment and support for individuals affected by Alpha-1.

By sharing accurate information, personal experiences, and supporting ongoing research, you can play a pivotal role in educating others about alpha-1 antitrypsin deficiency.

To learn more about advocacy within the Alpha-1 community, and find ways to get involved, check out  “What Does it Mean to Be an Alpha-1 Advocate?” on the Subscriber Portal and AlphaNet.org.