Uncover the basics of Alpha‑1

What does Alpha‑1 look like?

From its genetic nature to its associated symptoms and risk factors, we've got you covered when it comes to learning more about Alpha‑1 antitrypsin deficiency (Alpha‑1, for short).

Genetics Basics
Genetic Testing
Symptoms
Risk Factors

Alpha‑1 is genetic

Does lung disease run in your family? If so, genetics may be the cause. People with the inherited condition Alpha‑1 antitrypsin deficiency may be at an increased risk of developing chronic obstructive pulmonary disease (COPD), emphysema, or other serious lung conditions as adults. It's been found that up to 30% of people with COPD or asthma may have an underlying genetic cause such as Alpha‑1 for their lung disease.

Get to know the Alpha‑1 gene

Alpha‑1 can be passed from one generation to the next through abnormal forms of the Alpha‑1 gene. Genes are made up of a type of information called DNA that gets passed along to you by your parents. The word "allele" is used to describe different forms or versions of a gene. Every person inherits 2 alleles for each gene—one from each parent. For example, genes for a trait like eye color have different alleles that determine how that trait gets expressed (blue or brown eyes).

The same type of thing happens with Alpha‑1 alleles. Different combinations of alleles may affect the body's production of Alpha‑1 antitrypsin proteins in different ways. There are three main reasons why there might not be enough functional Alpha‑1 antitrypsin proteins:

The liver creates misshapen Alpha-1 antitrypsin proteins that can get trapped in the liver and can't easily move into the bloodstream toward the lungs.

The liver doesn't make enough (or make any) Alpha-1 antitrypsin proteins.

The liver produces Alpha-1 antitrypsin proteins that don't function the way they should.

Your risk of Alpha‑1 depends on the combination of Alpha‑1 alleles you inherit from your parents:

No Alpha‑1 2 normal alleles

The body produces a normal level of Alpha‑1 antitrypsin proteins
No increased risk of developing associated lung diseases like emphysema (a condition that causes shortness of breath)
No risk of passing Alpha‑1 to children

Alpha‑1 carrier 1 normal allele & 1 abnormal allele

The level of Alpha‑1 antitrypsin proteins may be low
There is a low risk of developing associated lung diseases such as emphysema
Moderate risk of passing Alpha‑1 to children

Alpha‑1 2 abnormal alleles

The level of Alpha‑1 antitrypsin proteins may be low or deficient
The risk of developing associated lung diseases like emphysema ranges from low to very high
High risk of passing Alpha‑1 to children

Julie's journey with Alpha‑1

Julie admits that getting tested for Alpha‑1 antitrypsin deficiency might not be top of mind at first, but knowing the truth about your diagnosis can make a big difference.

Julie, a real Alpha-1 patient, walking on a trail with her husband and dog.

After seeing my brother go through everything he had to go through, I realized I had to get tested.

-Julie, living with Alpha-1

View Transcript

Julie: In a perfect world I'd never have to think about Alpha-1 antitrypsin deficiency.

For a long time, I just ignored it and tried to pretend that it—it just didn't exist even though it was there.

Even after one brother and the other one got really sick, I didn't want to think that it could affect me too. But eventually I had to confront it.

My name is Julie, and I live in New Hampshire. I have three children, two girls and a boy. I'm married to my husband, Raymond.

Growing up my older brother, Rick, had this really terrible cough, and we always thought it was a little strange, and some of the neighbors used to joke around about it, because his cough would wake them up in the morning.

Then a few years ago my brother uh...Rick was visiting, and he told my brother Kevin and I that he had Alpha-1 antitrypsin deficiency, and he wanted us to get tested.

He had the ZZ phenotype which meant that he had a higher risk for uh...developing complications.

I looked at my brother Kevin, and-and he said, "Are you in the test-get tested for this?” And he said, "I’m not getting tested, I don’t want to know about this." And I said, "Neither am I; I’m not getting tested."

A few months later...my brother Kevin and I uh...went to California to visit my brother Rick, and my brother Rick pulled me aside and said, you know, “You need to talk to Kevin, he has that cough that I have," and I—I said, "No, that’s you, you have the cough." And he said, "No, Kevin has a really bad cough, he is sick, he’s really sick, you need to talk to him and convince him to get tested for Alpha-1." And I still did not do anything about it.

It was only a few months after uhm...we went to visit my brother Rick that I got a call from my parents that Kevin was in the hospital and uhm...he was very sick with Alpha-1. After seeing my brother go through everything he had to go through, I realized that I needed to get tested. So, I contacted an Alpha-1 support organization, and they mailed me a test. And it took a little while to get the test back, and I was shocked when I saw I had the ZZ phenotype because I still didn't feel like I had anything to worry about. I wasn't coughing. I was fine.

So I knew I needed to do some research, and I found a pulmonologist, and reached out to him, and decided that I would go see him in Boston. So, I did a pulmonary function test which measures how well your lungs can hold air. I ended up finding out that my lungs weren't what I thought they were. I said, "Oh, well, I guess I'm going to need treatment." And he—he was like, "Oh, no, you don't need treatment just yet. You're doing okay. Your lungs look okay. So, you know, we'll see you in six months, and we'll just decide from there." And six months later, I figured I'm gonna be fine. My lungs came down quite a bit, and that's when it hit for me. I lost it then 'cause I thought, "How could I lose, like, so much lung function in just six months?" So, I think that's what really did it for me—like, "Wow, this is it. There's no more joking around anymore."

That was a few years ago. Fast-forward to today. My infusions have become part of my weekly routine.

I enjoy spending time with my family and my husband and hanging-out with my friends, going to dinner...you know, going for walks with my dog. Yeah, so I really don't like talking about Alpha-1 at all, but I feel like I need to let people know. Do something if you feel like you might have bronchitis—asthma all the time. It is important to get tested, because having that knowledge you can move forward and live your life. Don't wait, don't ignore it, and talk to your doctor.

Be aware of how Alpha‑1 runs in families

Here's an example of what may happen when two Alpha‑1 carriers pass along different combinations of their Alpha‑1 alleles, or genes, to their children^*:

PARENTS

Father (carrier)

Normal
Alpha‑1 allele

Abnormal
Alpha‑1 allele

Mother (carrier)

Normal
Alpha‑1 allele

Abnormal
Alpha‑1 allele

CHILDREN

Child 1 (normal)

Normal Alpha‑1 allele from father +

Normal Alpha‑1 allele from mother

Child 2 (carrier)

Abnormal Alpha‑1 allele from father +

Normal Alpha‑1 allele from mother

Child 3 (carrier)

Normal Alpha‑1 allele from father +

Abnormal Alpha‑1 allele from mother

Child 4 (Alpha‑1)

Abnormal Alpha‑1 allele from father +

Abnormal Alpha‑1 allele from mother

*More than 100 different types of Alpha‑1 alleles have been identified. The most common alleles are labeled M (normal) and Z, S, or null (abnormal/absent). Your doctor can identify which alleles you have with a blood test.

Understand the importance of Alpha‑1 genetic testing

As you can see in the family tree example above, the way Alpha‑1 is inherited is not an all-or-nothing situation. Genetic testing can help you and your doctor confirm if you have Alpha‑1 or are a carrier. Take a look at the Alpha‑1 Diagnosis page to learn more about genetic testing for Alpha‑1.

Here are some reasons why genetic testing can be important for people with Alpha‑1, carriers of Alpha‑1, and their immediate family members (parents, children, and siblings):

Father and daughter in the kitchen cooking depicting how important alpha-1 genetic testing is.

Certain Alpha‑1 gene combinations could pose a higher risk of developing associated diseases, even if you're a carrier with only one abnormal allele.

Making lifestyle and environmental changes may reduce your risk of developing more advanced disease over time if you have abnormal Alpha‑1 genes. It's best to start making these changes as soon as you can, which is why testing for Alpha‑1 is so important.

Being a carrier means you might pass along Alpha‑1 to your children, even if you have only mild or no associated symptoms. Therefore, the sooner your children are tested, the better.

If you don't make enough Alpha‑1 antitrypsin proteins, your lungs may be more easily damaged by irritants. This can lead to serious lung disease. That's why early Alpha‑1 testing is so important.

Symptoms associated with Alpha‑1 in the lungs

Alpha‑1 can lead to lung illnesses such as COPD, emphysema, chronic bronchitis, asthma, or bronchiectasis.

Shortness of
breath

Excessive cough with
phlegm or sputum
production

Wheezing or persistent,
year-round allergies

Chest pain that
increases when
breathing in

Take a closer look at lung conditions associated with Alpha‑1

COPD

Chronic inflammation of the lungs that makes it difficult to get enough air in and out of the lungs
Causes of COPD include long-term exposure to inhaling irritating gases or air particles, often from cigarette smoke
Symptoms get worse over time and may include shortness of breath, chest tightness, excess mucus in lungs, chronic cough, wheezing, lack of energy, and frequent lung infections

Emphysema & chronic bronchitis

Emphysema and chronic bronchitis are lung conditions that contribute to COPD
Emphysema occurs when parts of the smallest air passages in the lungs are destroyed from exposure to cigarette smoke and irritants
Chronic bronchitis occurs when parts of the lungs are inflamed. Its symptoms include daily coughing and mucus production

Bronchiectasis

Usually the result of an infection or other condition that injures the airways
The airways slowly lose the ability to clear out mucus, which leads to repeated, serious lung infections

Alpha‑1 risk factors

Some of the main risk factors for developing a serious illness associated with Alpha‑1 include:

Having an immediate family member (parent, child, or sibling) diagnosed with Alpha‑1

Being diagnosed with a lung condition associated with or caused by Alpha‑1, or a family history of lung disease

Ongoing exposure to lung irritants, such as smoking, vaping, pollution, dust, and fumes

Having unexplained liver disease or a family history of liver disease

Are there options to
manage Alpha‑1?

If you have Alpha‑1, consider talking to your doctor about ways to manage related symptoms and lung illness.

Explore considerations

Uncover the basics of Alpha‑1

Alpha‑1 is genetic

Get to know the Alpha‑1 gene

Julie's journey with Alpha‑1

Be aware of how Alpha‑1 runs in families

Here's an example of what may happen when two Alpha‑1 carriers pass along different combinations of their Alpha‑1 alleles, or genes, to their children*:

Understand the importance of Alpha‑1 genetic testing

Symptoms associated with Alpha‑1 in the lungs

Take a closer look at lung conditions associated with Alpha‑1

COPD

Emphysema & chronic bronchitis

Bronchiectasis

Alpha‑1 risk factors

Are there options to manage Alpha‑1?

Thanks for stopping by

Take care!

Here's an example of what may happen when two Alpha‑1 carriers pass along different combinations of their Alpha‑1 alleles, or genes, to their children^*:

Are there options to
manage Alpha‑1?