Essential thrombocythemia

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

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?

Hi Lori. Thanks. Very helpful.
We do have other options. Dana Farber in Boston. That's an option we're keeping open. I'll wait for our appointment with the oncologist Oct. 22.
Thanks again,
Be well,
Steve and Becky

"Elkhorn" (abnormally shaped) megakaryocytes can be found in a bone marrow biopsy. This was the gold standard for diagnosis before genetic testing for driver mutations was common.

BMB is done a little less often now, though many docs feel it is useful to nail the diagnosis as well as to assess the level of fibrosis, if any, in the bone marrow.

A high platelet count that rises incrementally over a period of years where other blood counts remain normal + a positive test for one of the driver mutations = diagnosis. A small percentage of patients may be neg for the 3 driver mutations, which usually requires a bone marrow biopsy to look for the elkhorn megakaryocytes.

If I were worried about pushing buttons with a doctor, it might be because a) I did not have the right doc for me and my questions, or b) I was resisting a diagnosis.

I am a 69 yo female and I have ET with MPL mutation. I had an episode this spring with pericarditis that lasted on and off for about 3 weeks. Wondering if anyone else with ET has experienced this very painful inflammations of the pericardium, and if there is any relationship between the two?

All the responses I have gotten have been very helpful. This diag. is new for Becky and we're just trying to navigate the system and do everything we possibly can to make sure we have the best care possible. We are very happy with our current doc in several ways. I was just concerned that perhaps the diag was a bit too quick but your response goes a long way in reassuring us. We will be talking to the doc in a few weeks and we'll be going over some of these questions I have had but the more info we get, the better we feel that we are in the right place.
Thank you nohrt!

Hello! I too have the MPL driver (aren't we lucky?).

And while I have no diagnosis, I too have pain and pressure around my heart. For me it's triggered by cold or coughing. I have had rising platelets for about 3 years, was diagnosed with ET and started on aspirin & HU a year ago, first experienced the pain last winter.

I reported it to my oncologist, who said he thought it had nothing to do with ET. I have some doubts about his breezy dismissal. I will ask my PCP at my upcoming annual wellness check.

Keeping my chest warmly covered helps.

Sounds like Becky has been through quite a lot. I am looking at mitral valve repair, but am holding off until I can be sure insurance will pay for the transcath procedure instead of open heart surgery.

In dealing with a variety of co-morbidities along with ET, I've learned that a) most docs have never heard of ET, and b) the better you can get the platelets under control, the easier it is to deal with all the other stuff.

I would ask the doc if he thinks a bone marrow would be useful. And you can ask if other blood cancers have been ruled out. My guess is that the blood tests that detected the JAK2 included tests also ruled out leukemia or other cancers.

The good news is that hematologists are WAY more up on ET and other MPNs than they were 10 years ago. So diagnoses can be made better and faster.

Doctors still need to do better helping patients understand the disease.

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.

Hi. I'm glad they found the issue before you had a blood clot. What was your platelet level and what's the dosage of your Hydrea? Becky's gums are a little sore for the last couple of days but she is not sure if it's related. Other than that, she has no side effects.
She is on 500mg of the Hydroxy, once per day. Her platelet level was in the mid 600's when we started wondering if something was going on but she had no symptoms from that.
Hope that helps and I hope you can get to the bottom of your side effects. I would think it would be a good idea to talk to your oncologist regarding the side effects you are having.
Good luck and keep in touch if it helps. I think this forum is outstanding.
Steve