If I Have COPD, Should I Be Tested to See if it’s Genetic (Alpha-1)?
This is a good question. Let me share a few reasons why I think that answer should be...YES!
Symptoms and aging
One reason for testing is that some people with COPD think about testing and say, "Well, no one else in my family has COPD so I shouldn’t have to worry about testing." Over the years I have met many Alphas who had no noticeable symptoms (that they noticed anyways) until their 70’s, 80’s, or even 90’s. Then they assume their problems are just from getting old and might not link the two together. Also, some family members may have had liver or skin problems which can also be related to genetic COPD.
I have a few Alpha-1 friends who were diagnosed with COPD for years before they got the correct diagnosis of COPD from having Alpha-1. They all wish that they had been diagnosed sooner because that would have given them more time of having augmentation therapy. Augmentation therapy is given once a week by IV infusion and the ultimate goal is to slow or stop the progression of lung destruction by replacing the deficient protein.1 Like COPD, there is no cure for Alpha-1 but it can hopefully be slowed down if treated early enough with diet, exercise, and augmentation therapy.
Genetics and tests
Passing on genes
Looking out for our family members including our children and grandchildren is another great reason to be tested for Alpha-1. With Alpha-1 being a genetic disorder, you can pass those genes on to them. It is important for our family members to know the important steps they need to take to try and stay as healthy as possible. Since being diagnosed in 2010, I have found out that 10 other family members also have Alpha-1 and I am sure there are many more out there who just haven’t been tested yet.
Some doctors don’t think that COPD patients should be tested because "they don’t look like they have Alpha-1" or "they were smokers so they don’t need to be tested" or "it’s rare so we don’t need to test them." I feel like this is wrong in so many ways. You can’t physically see Alpha-1, you have to have a blood test or simple swab test so why not just rule it out?
Who should be tested for Alpha-1?
The Alpha-1 Foundation recommends the following people be tested for Alpha-1:1
- Anyone who has COPD regardless of age or ethnicity
- People who have unexplained chronic liver disease
- People who have necrotizing panniculitis (skin), granulomatosis, or unexplained bronchiectasis
- Parents, siblings, and children as well as extended family members, of people who have been identified with an abnormal Alpha-1 gene
Besides the above, I would think about testing someone who was always sick as a child or is as an adult. This includes chronic colds, bronchitis, pneumonia, allergies, asthma, and even jaundice at birth.
If you feel any of these reasons pertain to you or your family, please ask your doctor to be tested even if they think you don’t need it. If they won’t do it, the Alpha-1 Foundation has a free test kit that you can order from their website. I would also like to suggest that you get a phenotype and genotype when you get tested by your doctor. They can miss that you are a carrier of Alpha-1 if they don’t do both tests and your doctor may not realize that this is important. The Alpha-1 Foundation website also has pamphlets that you can give to your doctors if they are not familiar with Alpha-1.
I am so glad to hear that 23 and Me and other genetic tests are doing Alpha-1 tests with their kits. We are seeing more and more Alphas finding out this way before they even have any symptoms. I think this will really help them be proactive in staying healthy and help their family members in getting tested also.
I'm curious, how many of you have been tested for Alpha-1? Feel free to message me if you have any questions.
Do you have a COPD exacerbation tool kit?