column logo

“Everything looks great! It looks like your results are normal,” the nurse said. When I got this call, after reporting what might be liver pain related to alpha-1 antitrypsin deficiency (AATD), I felt more confused than ever about how to handle the situation. I thought later it might be related to the infusions, but I needed education about this side of this condition.

This was a few months ago. As a young person who rarely, if ever, drinks alcohol and never smokes, liver involvement was the least of my worries. I still know relatively little about why that area remains so sensitive. 

Earlier, at the appointment that led to this test, my family nurse practitioner (FNP) was checking my abdomen for problems at a routine checkup. I have swelling in my abdominal region frequently and that day I had a lot of pain in the area my liver is and I winced when she pressed on it. 

Continue Reading

This healthcare professional is one of my favorites for her ability to listen, but she was not aware of AATD or its complications. In fact, after 3 different appointments and conversations, AATD made it on her list of diagnoses for me—years after my initial evaluation. 

Read more about experimental therapies for AATD

She wasn’t too concerned, but a few mornings later, I woke up with sharp, debilitating pain in that area and subsequently asked for a test. The results showed slightly raised liver enzymes, but to her, they were “pretty normal.” The call could have been better if she had offered a solution to the sharp pain or to schedule a follow-up evaluation. 

I am sure she has her reasons for not finding out what the issue was, like being incredibly busy, which is understandable. Thankfully, the pain in my side subsided to a bit more of a dull, constant one that I don’t even think about much. 

But I know this protein deficiency has probably affected my liver to some degree. After all, my genotype is PiSZ, so I have one abnormal “Z” allele that tends to be the main cause of the liver dysfunction that happens as a result of AATD. I have definitely heard lots of similar stories from friends on my Facebook support group.

If I had to do all of this over again, I would have asked what she thinks is causing my distinct symptoms and test results and how to alleviate them. It still happens from time to time but I wonder now if the pain was from my body getting used to the augmentation therapy I had just started receiving.

My pulmonologist asked me to let him know when and if I start to experience liver issues a while back and he is too busy to see me so right now I am still waiting to hear from him. I think people with the PiSZ genotype probably have quite a few questions for doctors.

As someone who has multiple health issues besides this deficiency, I know there is always a possibility that one of my other organs may suffer as a result. I know my pulmonologist can handle my questions. But I do wish I had received more information about what liver symptoms to watch for so I can keep from wasting my time with it.

With the other health issues I have, I know that an issue in my joints can eventually affect several other systems and organs if it isn’t dealt with immediately. My breathing can be affected by pain in other areas, so, in my book, it would seem as if slightly elevated liver enzymes and intense pain in that area are important.

It does seem like it would be good for patients with AATD to have a bit of a warning about the possibility of having some initial pain in the liver. That would have saved me initial anxiety and the time spent at the doctor’s office.

I still appreciate my FNP for her dedication to hearing me out and for trying to learn more about AATD. I feel like it was good to ask my AATD specialist about it when it happened, even if I am now going to have to wait for his answer a little longer. There is so much that a genotype can predict and yet so much that it cannot.

I would say that it has definitely been a wild ride being a PiSZ AATD patient. I am so thankful for such great medical interventions as augmentation therapy to help me.