Who should get tested for Alpha‑1?
Your healthcare provider may want to test for Alpha‑1 if you have any of the following:
Immediate family member (parent, sibling, child) that has been diagnosed with Alpha‑1
Chronic obstructive pulmonary disease (COPD) or emphysema with no known underlying health risk or condition
Chronic, uncontrolled asthma, bronchitis, or year-round allergies
Liver disease without any known causes
Sometimes, a skin condition called necrotizing panniculitis—raised, tender skin spots that form ulcers
The importance of testing for Alpha‑1
Since Alpha‑1 is genetic, testing for this condition may provide valuable information to both you and your family.
Jim: Well, A, it's very important to get tested. You need to understand. And the earlier you understand, the earlier you can put a management plan in place for it. Secondly, it's so important that it's communicated because this is, again, a genetic disease that will impact your family. You need to have them understand what it is so that they can make the appropriate plans and management of it as quickly as possible.
Julie: I feel testing is very important, and I have recommended to a few people that I know. Every time you inhale things like smoke or pollution it does damage to your lungs. Damage that can't be undone, so the earlier you know, the better. I thought it was really important for my, my kids to be tested and my whole family to be tested. I let them know about my brother's condition and that it was a genetic disorder and that they needed to be tested.
What does it mean if a family member has the Alpha‑1 gene? Learn more about genetics.
How do you test for Alpha‑1?
It starts with a discussion with your doctor or healthcare provider. In addition to a health assessment, they may ask about your family history. This is because Alpha‑1 runs in families, which means it’s genetic.
Your doctor may order a simple, quick blood test that can be done at your doctor’s office. The test gives information about your Alpha‑1 genes, which are instructions made up of DNA that your body uses to create Alpha‑1 antitrypsin proteins. Different forms or versions of a gene are called alleles. Each person inherits one allele from their father and one from their mother.
An Alpha‑1 blood test
can be used to learn:
The amount of Alpha‑1 antitrypsin protein in your blood
If the Alpha‑1 antitrypsin protein amount or type is abnormal
The type of Alpha‑1 genes, or alleles, you inherited (called your genotype*)
If results show low Alpha‑1 antitrypsin protein levels or abnormal alleles, your healthcare provider may do additional testing. This may include pulmonary function testing (PFT) to determine the health of your lungs. PFT typically measures lung volume and uses a breathing test called spirometry. This test measures how much air you can breathe in and out of your lungs, as well as how easily and fast you can blow the air out of your lungs.
If you’re wondering about testing costs, check with your insurance provider—many cover Alpha‑1 testing if it’s deemed medically necessary.
*People have 2 alleles for each gene, with 1 allele inherited from each parent. Each pair of alleles represents the genotype of a specific gene. For example, someone may have an Alpha‑1 genotype labeled as MM. The MM genotype shows that this person has 2 normal (M) alleles and therefore does not have Alpha‑1.
The path to diagnosis with Alpha‑1
Navigating the path to Alpha‑1 diagnosis can be different for everyone. Watch Jim and Julie share their unique stories.
Jim: It was about 2016 when I started noticing my breathing wasn't where I thought it should be. When I played basketball with friends or something like that, you know, I would be out of breath quickly so, but I didn't think much about it at the time, I just thought well, I just don't know how to breathe like they do, I guess.
Julie: Back in maybe 2016 to 2018, I was a teacher at a private school, and I was always on the third floor, so I used to have to walk up the stairs with my bags, and typically I would, you know, prior to that I was working there for many years. I could just go right up the stairs. It was no problem. And in that timeframe, I was having a hard time, and I'd have to stop at the landing of the second floor and catch my breath. I just shrugged it off as, I'm overweight and I'm getting old, so I'm having a hard time breathing.
Jim: So, I was struggling and struggling, and I brought it to my primary physician. And she basically did some workups, x-rays, she did a PFT, an initial PFT just which is a pulmonary function test. And basically, the result was well it's probably asthma. So, needless to say, I went to an allergist and asthma specialist, and I was on all types of inhalers, most of them, I didn't feel were, were working at all and so she had actually said, yeah, something's not working here, let me try a few more things and one of them was let's do a blood test, let's eliminate some of the things that it might be, she was really thinking that we're just going to eliminate the Alpha-1 deficiency and unfortunately when she did the blood test, which I was grateful she did, at least we know what it is we were able to determine that okay, it's not really asthma, you've got other issues going on. And she was the one who also turned me over to a pulmonologist. Pulmonologist did his own workups such as a CT scan, where they understood why I was having breathing issues, and it's because, because of the Alpha-1, I developed emphysema in my lungs.
Julie: My brother Rick was diagnosed with Alpha-1 antitrypsin deficiency, and he wanted us to know about the condition. I really didn't think I had Alpha-1, but I was becoming more and more out of breath, and so after my other brother was diagnosed, I decided that it was really time to take a test and see if I had Alpha-1 antitrypsin deficiency.
What if I am diagnosed with Alpha-1?
How to manage Alpha‑1Are there other people like me?
Find Alpha‑1 support
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