Ep07: Diagnosing Genetic COPD

Episode Transcript

Alyssa Gloor: I was diagnosed with alpha-1 probably back when I was about 25 years old.

Micaela Arneson: Throughout the COPD podcast, we've learned about different causes of COPD, like smoking and exposure to harmful fumes and other irritants. But in some cases, COPD can be caused by a condition called alpha-1 antitrypsin deficiency, which is also known as just alpha-1.

Sydney Rudowski: Alpha-1 antitrypsin deficiency is a genetic condition. It makes you at a higher risk of developing COPD. 

Micaela Arneson: So in this episode of the COPD podcast, we'll learn what alpha-1 is, including common symptoms. 

Alyssa Gloor: I had had a hard time with exercise and just generally a hard time with breathing. 

Micaela Arneson: We'll talk about how alpha-1 is diagnosed and treated.

Sydney Rudowski: Typically, we would think of a blood sample. 

Mike Hess: Treatments include the standard asthma or COPD treatments like inhaled bronchodilators, inhaled corticosteroids and that sort of thing.

Micaela Arneson: And we'll discuss the importance of genetic testing. 

Sydney Rudowski: Genetic testing is helpful to determine treatment options. It also is important because there are risks to family members because genetics run in families.

Micaela Arneson: And as always, we'll include resources at the end of the show where you can learn more. Welcome back to the COPD Podcast, I'm your host, Micaela Arneson. 

The COPD Podcast was created for educational purposes only. It is not a substitute for formal medical advice, diagnosis, or treatment. So if you have questions about a medical condition, talk to your qualified healthcare provider, and if you are a healthcare provider, please be sure to refer to current evidence-based guidelines and recommendations for best practices. 

You may not have heard of alpha-1 antitrypsin deficiency before. It's not terribly common. 

Sydney Rudowski: Alpha-1 antitrypsin deficiency is a genetic condition that predisposes people to certain health conditions.

Micaela Arneson: This is Sydney. 

Sydney Rudowski: I'm Sydney Rudowski, and I'm a genetic counselor.

Micaela Arneson: According to the American Lung Association, about 100,000 people in the United States have alpha-1, and as Sydney said, it's a genetic condition, which means that you inherit it from your parents. 

Sydney Rudowski: So what happens is in our DNA, if you think about it as like this huge instruction manual, and each page is a specific gene telling our body how to produce something.

Micaela Arneson: One of the things our bodies are supposed to produce is a protein called alpha-1 antitrypsin. This protein is made in the liver and it serves a very important function. 

Mike Hess: Alpha-1 antitrypsin helps counteract some of the defender molecules that are inside of your lungs. 

Micaela Arneson: Mike Hess is a respiratory therapist. We met him in previous episodes. 

Mike Hess: If you have dust molecules, or if you have viruses or bacteria, you have certain cells that actually go to work to defend your lung tissue against those invaders. Once those invaders are gone, we need something to shut off those defenders and kind of send them back to the fort. That's the role of alpha-1 antitrypsin. It shuts down those defenders and gives them the all-clear. 

Micaela Arneson: In other words, alpha-1 antitrypsin protein acts as an off switch, telling the body's immune system that there are no more threats. If there is no off switch, then the body's defenders can start attacking healthy tissue instead.

In alpha-1 antitrypsin deficiency, there's a problem with a part of the body's instruction manual that tells the body to make the alpha-1 protein. 

Sydney Rudowski: This specific gene for alpha-1 antitrypsin, the page is either missing, the words are rearranged, or there's spelling errors, so when you read through it, it doesn't make sense, and it doesn't make sense to our body.

Micaela Arneson: This causes the body not to make enough alpha-1 protein, or to make it badly, so it gets stuck in the liver. If the alpha-1 protein gets stuck, it can cause scarring in the liver, which can lead to liver disease. If the body doesn't make enough alpha-1 protein to begin with, there won't be enough to travel to the lungs to protect them from damage.

Sydney Rudowski: So with alpha-1 antitrypsin deficiency, it makes you at a higher risk of developing things like COPD.

Micaela Arneson: Just because someone has the genes for alpha-1 antitrypsin deficiency doesn't mean they will definitely get COPD. Firstly, it depends a bit on what kind of alpha-1 a person has. 

Sydney Rudowski: It really depends on the underlying genetic cause. So, there are multiple different variations of alpha-1 antitrypsin genetically.

Micaela Arneson: For example, if someone inherits two copies of a certain genetic mutation for alpha-1, they'll have a 75 percent chance of developing lung problems. But lifestyle factors also still play a big role.  

Sydney Rudowski: A lot of times these symptoms of COPD are at play because of other factors such as the environment or lifestyle.

Micaela Arneson: In other words, it's more likely someone will develop lung disease, like COPD, if they also smoke or have had a lot of exposure to harmful air pollution, in addition to having the genes for alpha-1 antitrypsin deficiency. Most people who have alpha-1 don't know it. It's estimated that only about 10 percent of people get an accurate diagnosis, and this is because the symptoms of alpha-1 are easily confused with other lung conditions.

Mike Hess: The symptoms of alpha-1 antitrypsin deficiency usually show up in one of two spots. They show up in the liver, and then they also cause damage in the lungs. Now, unfortunately, that damage can look like asthma, it can look like a lot of, kind of ongoing lung issues, so it's a very non-specific kind of symptom.

Alyssa Gloor: I had had a hard time with exercise and just generally a hard time with breathing, but I didn't recognize that that was not normal.

Micaela Arneson: That's Alyssa. She was eventually diagnosed with alpha-1, but not right away. 

Alyssa Gloor: First I went to my regular doctor who diagnosed me with asthma.

Micaela Arneson: Like Mike said, Alyssa's symptoms of shortness of breath, especially during exercise, looked a lot like asthma, so her doctor gave her some medicine to manage her symptoms.

Alyssa Gloor: They did give me an asthma inhaler. And they gave me like a really low dose steroid to use. They gave me, you know, the basic, don't smoke, try not to drink, and use your inhaler.

Micaela Arneson: Despite her medication, Alyssa still had symptoms. 

Alyssa Gloor: But my mom, I think, noticed that I was struggling sometimes. And that's why she was the one to really encourage me to go in to get tested. 

Micaela Arneson: Alyssa went to a pulmonologist for a blood test, and that revealed that she had alpha-1 antitrypsin deficiency. A blood test can check how much of the alpha-1 antitrypsin protein you have. If it's lower than normal, that can indicate that you have alpha-1 antitrypsin deficiency, and a genetic test can confirm this.

Sydney Rudowski: The best way to go about it is to talk to a genetics professional to go through your risk assessment, but also to consent you for the testing so they let you know all the different factors that go into genetic testing.  

Micaela Arneson: A genetic counselor like Sydney can perform a genetic test. 

Sydney Rudowski: Typically, we would think of a blood sample, but nowadays we can also do the genetic sequencing based off of saliva or a buccal swab.

Micaela Arneson: This is another word for a cheek swab. 

Sydney Rudowski: So you can spit in a tube or do a cheek swab. 

Micaela Arneson: The genetic test will be able to tell whether you've inherited the genetic mutations that cause alpha-1 antitrypsin deficiency. Because alpha-1 is often misdiagnosed, or not diagnosed at all, Mike Hess says it's important for anyone with symptoms of lung disease to get tested.

Mike Hess: The best practice standards that have been put out by some of our pulmonary organizations, anybody who has a spirometry test or a pulmonary function test and has actual airflow obstruction diagnosed by that test should be screened for alpha-1 antitrypsin deficiency. Healthcare providers really should consider alpha-1 antitrypsin deficiency in people who have difficult to control asthma and really anyone with COPD.

Micaela Arneson: We've talked about spirometry and pulmonary function tests in previous episodes. These tests measure how well your lungs work. It's also recommended people get tested if they have symptoms of lung disease that aren't controlled by medication. 

Mike Hess: We highly recommend anybody who has those kinds of symptoms, who maybe has been on treatment for asthma or COPD, and hasn't seen a lot of success with it, to talk to their primary care provider about getting more testing to make sure that they're on the right therapy.

Micaela Arneson: This is another reason genetic testing is so important. 

Sydney Rudowski: Genetic testing is helpful to determine treatment options. There are FDA approved treatment options out there now, and to qualify, you would need the diagnosis, and to have that diagnosis, typically you would want the genetic testing.

Micaela Arneson: Alpha-1 antitrypsin deficiency can't be cured, but it can be treated to slow lung damage. We'll talk more about treatment options in a moment. But first, a final word from Sydney on the importance of genetic testing. 

Sydney Rudowski: Also is important because there are risks to family members because genetics run in families. So there are other people who could benefit from knowing or if they're experiencing similar symptoms, they might reduce how long it takes them to get genetic testing because you have a result, and then they could also have that option of treatment.

Micaela Arneson: By getting tested for alpha-1 antitrypsin deficiency, you can help your family members understand their risk and get themselves tested, so they too can access treatments if necessary.

If left untreated, alpha-1 antitrypsin deficiency can cause serious lung damage, but the good news is it doesn't have to. Many people with alpha-1 live a normal, healthy life by managing their symptoms, and there are several treatment options. 

Mike Hess: The treatments for alpha-1 antitrypsin deficiency include the standard asthma or COPD treatments like inhaled bronchodilators, inhaled corticosteroids, and that sort of thing.

Micaela Arneson: We've talked about these treatments in previous episodes. Bronchodilators help relax the muscles in the lungs and widen the airways, making it easier to breathe. And corticosteroids reduce inflammation in the lungs. Healthy lifestyle changes like not smoking, limiting alcohol intake, and maintaining a healthy weight all help lower the risk of serious lung damage.

And some people with alpha-1 may need something called augmentation therapy. 

Mike Hess: We have augmentation therapy, where we can actually take alpha-1 antitrypsin molecules from one person’s blood plasma and place it into another person’s bloodstream. It's an infusion therapy, it takes place about once a week, and you’re actually able to have a higher level of alpha-1 antitrypsin in your blood.

Micaela Arneson: Alyssa takes augmentation therapy.

Alyssa Gloor: Well, the nurse comes to my home and for about two hours, it takes about two hours for me from setup to takedown. They use equipment that they ship to me and medication that they ship to me, and just everything happens right there in my kitchen. They insert a needle into my arm with an IV and then they do like a gravity drip.

Micaela Arneson: Augmentation therapy can be expensive. So talk to your provider if you have any questions about affordability or any potential alternative prescriptions. You should also familiarize yourself with your health insurance policy to understand what's covered. And there are other resources like the Patient Access Foundation and rxassist.org that can help you find out if you qualify for programs that can help you afford certain medications. Speaking of resources, if you want to learn more about alpha-1 antitrypsin deficiency, head to our website at healthunmuted.com/resources to find links to trusted websites like the Mayo Clinic, American Lung Association, and the COPD foundation.

We've covered a lot in this series from causes and symptoms to treatments and living well with lung disease. And we encourage you to refer back to these episodes as you continue in your journey with COPD. This is the final episode-- for now. Follow and share the series and check our website at healthunmuted.com for bonus content and updates as we add more shows about other health conditions. And we'd love your input. So please visit healthunmuted.com/feedback to tell us what you thought of this show and what you'd like to hear next. 

This series is part of the Health Unmuted audio library by Mission Based Media and was created in collaboration with the COPD Foundation.

The COPD podcast is written, hosted, and produced by me, Micaela Arneson. Sound design is by Ivan Jurich. Our executive producer is Dan Kendall and Chris Hemmings is our associate editor. Thanks to everyone who contributed their stories and voices to the COPD Podcast series.