When I found out I had alpha-1 antitrypsin deficiency (AATD) type PiSZ, I naturally wanted to find out everything I could about it. I didn’t learn a whole lot from the internet, as not many studies have been done on my particular phenotype. And I found there are differing viewpoints on this that contradict one another.

I learned that many things about respiratory disease make it challenging. And it doesn’t help that “SZ’s” are even more unpredictable. At the same time, one of the greatest overarching needs a patient with this condition has is the need is to be heard.

What I did learn in my searches was that the Z allele produces many alpha-1 antitrypsin proteins, but most of them are not able to be used by the body. Often they do not get out of the liver because of their misshapen body. This allele raises the risk of liver disease in some, especially those with homozygous Z alleles.

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The S allele does produce some alpha-1 antitrypsin, but it always does so in fewer amounts than someone with a normal “M” allele. Just having one deficient allele doesn’t officially count as a clinical deficiency. In my case, I have 2 deficient alleles.

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Some consider the terms of deficiency controversial. There are some doctors who don’t consider PiSZ patients to be seriously deficient individuals. And there are certainly some PiSZ patients who never develop symptoms.

And herein lies the problem: I did develop symptoms. If my doctor had not listened to my complaints and completed my yearly pulmonary function test, we would probably never have found out what was causing the severe fatigue and chest pain I was experiencing.

When my DLCO began declining, my doctor took action and looked at a CT scan of my lungs and a number of blood tests, and got me started on augmentation therapy. This is something I had heard would probably only happen to me unless I smoked. I never smoked one day of my life.

If my doctor hadn’t listened and considered what might have caused such damage to my lungs, I probably would have found it difficult to find a second opinion. I could have become depressed. These challenges with an unknown cause were very difficult for me to know how to handle.

I have talked to some pretty symptomatic SZ’s who don’t smoke or drink and yet have both liver and lung issues. In fact, those of us with AATD PiSZ have a moderate deficiency but great variability in their baseline AAT levels. My baseline levels just happen to be on the low side.

Since I have a reduced ability to exercise and moderate asthma, I can’t even speed walk without consequences that are, at the very least, embarrassing. Obviously, the results of having this condition are never predictable, especially with this phenotype.

There is one thing that helps determine how PiSZ affects someone is their baseline levels, according to my sources at Alphanet.org; it’s their baseline blood levels. An individual like a PiSZ may have an 82 one day but most days be in the low 50s and 60s, which could still cause problems. Therefore, it seems like a good idea to take anyone with this genotype seriously.

Just to tie up my story, I never was diagnosed with emphysema. However, with such a rapid decline in lung function and how poorly I continued to feel, and the lung damage my doctor saw had developed, I opted to go ahead with augmentation therapy.

Also, I hate needles, but I am so thankful for the infusions as they reduced pain in my lungs and some fatigue. Everyone responds differently, but now that I understand I have a fragile condition, I pay more attention to any symptoms I develop.

There are a lot of things I wish I had done differently in my life, such as staying away from essential oils and cleaning chemicals. I also wish I had spread more awareness about AATD with friends and family so they would know why I had to cancel social commitments or opt out of the long hikes and camping trips I was invited to join.

Having a name for my condition has helped to treat what could have ended up as emphysema for me. I am even more passionate about health now that I understand the risks associated with this condition. I am glad I know how fragile quality of life can be.