Connect
← Return to Essential thrombocythemia
Discussion
Comment receiving replies
The more research I do regarding my wife (Becky’s) ET diagnosis the more I’m wondering about the accuracy of it but I want to be careful not to push the wrong buttons with her oncologist.
Here’s what I have been reading on the NCCN.org website that concerns me as to her diagnosis:
According to NCCN, there should be multiple criteria to diagnose ET.
One is a high number of platelets. check!
Another is a high number of abnormal megakaryocytes in the bone marrow. (not checked)
Another is ruling out other blood cancers (I’m not sure about this one)
Another is having the Jak2 gene mutation which she has.
So, I’m questioning the diagnosis because of another issue Becky has and that’s a swollen left leg. It’s been swollen for the better part of a year which we attributed to her needing a knee replacement. She had her knee replacement 3 months ago and her leg is still swollen.
She has been on Hydroxyurea for 3 weeks now and we are working on finding the right dose.
I believe her diagnosis was only from the rising platelets and the Jak2 gene mutation
Also, for more background, her platelets have been rising steadily since August of 2021 but were not above normal range until July 2024.
She had her aortic valve replaced in 2019
Lyme disease in 2019
A right total knee replacement in 2021
A left total knee replacement in 2024
So is it possible that she doesn’t have ET but instead has reactive thrombocythemia due to chronic inflammation?
We’ll be asking her oncologist his thoughts when we see him later in October but again, I don’t want to push buttons I should not be pushing.
Thank you,
Steve
Replies to "The more research I do regarding my wife (Becky’s) ET diagnosis the more I’m wondering about..."
Hi Steve, I was just diagnosis with ET yesterday after my bone marrow biopsy came back and also having the Jak2 gene mutation. I was just put on the Hydroxyurea as of yesterday and was wondering from you what are the side effects? I do feel some nausea and wondering about the dizziness and loss of hair? Has your wife gone thru any side effects? Also, I have severe numbness and tingling feeling below my knees (calves, ankles and feet are effected) by the ET not everyone has the loss of sensation but I have, so much so it has caused me to be out of work for 8 wks due to the fact that my job requirements are to be on my feet 8 hrs a day. I am 52 years old and never had any other disorder so this was a shock for me as I'm sure for your wife as well. I should mention I have had every blood test imaginable and my platelet levels are extremely high, red and white are normal.
Connect
Hi Steve, Becky has the JAK2 mutation which, from my understanding, makes primary ET more likely, along with the elevated platelets. The mutation can be indicative of a myeloproliferative disorder, such as ET, PV, myelofibrosis. A bone marrow biopsy would be necessary to check for megakaryocytes.
Secondary or reactive thrombocythemia is generally caused by chronic inflammatory conditions such as rheumatoid arthritis, chronic inflammatory bowel disease, acute infections, etc. You mentioned Lyme disease which can cause inflammation but I did a little research and only found cases of thrombocytopenia (reduced platelets) associated with Lyme.
Asking questions of her oncologist certainly isn’t pushing buttons. You’re both concerned and want to make sure this is the right diagnosis. You could ask for a bone marrow biopsy. And of course, you can also ask for a second opinion!
Do you have other hematology/oncology options nearby?