It’s an ongoing controversy. Should those who carry the gene(s) for alpha-1 antitrypsin deficiency (AATD), specifically those with the PiMZ genotype, be allowed to have augmentation therapy? I normally agree with the AATD support websites that say “no,” but on this I might disagree. There are just so many reasons why people get diagnosed as “carriers” who have actual problems.
I’m in a support group where many people have the PiMZ genotype and report having pretty bad symptoms for being a “carrier.” I have a family member who has the genotype and has breathing problems and so seem affected by the condition. Because of that and other things, I believe some of them would benefit from augmentation therapy.
As someone with the PiSZ genotype, I can say that I have benefitted from augmentation therapy, and my AATD levels are not as low as the PiZZ genotype. I am not a necessarily “high-risk” patient, although I have a lot of issues, including lung damage, hyperinflation, vasculitis, and possibly emphysema.
Continue Reading
I have never smoked. Yet, some with the more severe PiZZ genotype never have any issues their entire lives. That’s why I think there is more at play here than the level of protein in the blood. I wonder if it has something to do with the Z’s ability to function or if it could be another factor altogether.
Read more about experimental therapies for AATD
Many with MZ do not like the term “carrier” because they get denied treatment for such reasons. I firmly believe many of these patients need treatment. Is augmentation therapy the treatment for them?
Maybe, maybe not. Many of these people deal with chronic inflammation. AATD is known to cause issues because of a patient’s lack of ability to stabilize inflammatory conditions. So why not try treat the patient with standard card of acre for symptoms, and if that doesn’t work, try infusions?
There’s more to this condition than just one single factor. The patient would need to avoid smoking and secondhand smoke for this to work. There needs to be a thorough analysis of the individual symptoms and risk factors for COPD. If the patient believes their doctor isn’t listening, I can tell you, they will get a second opinion.
There has to be a reason why so many with the PiMZ genotype in my online support group are presenting with symptoms. They are often very vocal about getting “written off as a carrier” and left to deal with symptoms, with little comfort for the future.
Read more about AATD comorbidities
However, I believe it can be wasteful of valuable resources to allow just anyone with such diagnoses to have this therapy. There’s not a lot of this, and if the patient can avoid getting stuck with a needle every week, they may as well not. As many doctors already do, I recommend proceeding with caution on this subject.
We have come so far in learning about AATD and its effects on the lungs, liver, skin, and blood vessels. I believe we will learn more about it as we continue to do clinical trials and get patient feedback. The Alpha-1 Foundation is doing a great job of keeping up with these things.
It’s a hot topic, and I know a lot of people and groups will not agree. I am not asking anyone to believe what I’m saying. I only ask that we consider new findings about AATD and continue to treat patients with the PiMZ genotype as needed.
I may be a little biased because I have a family member with PiMZ who was definitely lung affected at what I believe to be a young age (less than 30). Many in my family (and I have a big family) likely have the PiMZ genotype but not all of us have breathing issues. Because of this, I think about such things a little bit more.
Most likely, part of the reason some patients with AATD have more issues is because of other existing conditions that can be made worse with an issue that is related to inflammation. So often, I hear people with PiMZ talking about the variety of other issues they have, not just pulmonary.
I have learned so much from them and my support groups. I think we can learn a lot by purposefully listening. I have learned a lot and hope to learn even more.
