Essential thrombocythemia

I'm so sorry your mom is dealing with MF. Guessing she has the CALR or MPL gene if she is JAK2 negative? The up-side is that there are newer drugs approved to control MF that insurance will pay for. Hopefully her doc is on top of that or she can get a referral to an MPN specialist.

My wife, who is 72 was recently diagnosed with ET. She had a blood test prior to knee replacement therapy and it showed an elevated platelet count, slightly above the normal level. I checked the "trend" on her medical portal and saw that even though this recent blood test was the first with a level above normal, it's been steadily rising for the last 5 years.
Thru further blood tests, requested by the hematologist/oncologist, we found that she has the jak2 gene mutation which is found in I think around 50% of the people with ET so that was her diagnosis, that she has ET. She is on a baby aspirin 2x per day and the hydroxyurea, once per day at 500mg. She started taking this chemo drug 3 days ago and so far has zero side effects.
I am wondering if the negative Jak2 gene mutation was enough be the reason she has ET or should she also get a bone biopsy to see if there is anything else going on?
Thank you,
Steve, (a concerned husband)

Hi Steve, Welcome to Connect.
ET, or essential thrombocythemia is one of a group of blood disorders where there’s an overproduction of one or more types of blood cells called Myeloproliferative neoplasms. (MPN). Just flows off the tongue, right?! In your wife’s case, she has too many platelets.
Her hematologist ordered the testing to check for the potential cause for the over production. As you discovered in your research, the JAK2 acquired mutation accounts for more than 50% of the cases, though there are other possible mutations. Being positive for the JAK2 mutation is enough to diagnose the blood disorder.
Her hematologist/oncologist has her on the first line treatment for ET, hydroxyurea, to help control the proliferation of the cells and keep them at a more normal level. She’ll be having labs on a routine basis which will let you and her doctor know if her platelet level is going back down and then holding in a comfortable zone. If her doctor (and you, by watching her results) starts seeing trends elevating in spite of the meds, then her doctor may want to do a bone marrow biopsy to check on the health of her bone marrow. It’s not always necessary to diagnose a MPN.

There are so many sites online that offer information but they can lead you down some rabbit holes to articles that won’t apply to your wife’s condition. They tend to cause unwarranted anxiety. So here are a couple sites that have great information and are credible sources:

Very Well Health.com
https://www.verywellhealth.com/essential-thrombocythemia-2860907#:~:text=Essential%20thrombocythemia%20is%20a%20rare%20blood%20cancer%20that,potentially%20life-threatening%20complications%20like%20heart%20attack%20or%20stroke.
Leukemia & Lymphoma Society
https://www.lls.org/myeloproliferative-neoplasms/essential-thrombocythemia
Was your wife able to go ahead with her knee replacement?

Hi Lori. Thank you for the reply. It was great and very understandable. Yes, she got the TKR. It was happening before we got the news of the MPN although it was evident she might have it.
My concern is that if there is something more funky with her bone marrow, wouldn't it make sense to find out sooner rather than later?
I'll look at the other sites you mentioned.
Again, thank you very much,
Steve

PS. I just read your profile. Congratulations!

Your wife is unlucky to have ET, but very lucky to have you.

Hi Steve. While a bone marrow biopsy (BMBX) isn’t necessary to diagnose ET, it can be a valuable tool in assessing the overall health of your wife’s bone marrow…the heart of the blood manufacturing site in the body.
You sound very much like my husband, he would have insisted the doctor go the extra mile too, and ask for a bone marrow biopsy. It likely would not change the direction of treatment though.
The doctor may also wait to see how your wife is responding to the hydroxy. A biopsy may be recommended if there are unusual symptoms or complications. Regular monitoring may be all that’s required if everything is responding as anticipated.
But it’s certainly within your rights to request a biopsy.

When is her next set of labs?

Thanks Lori.
Her next lab is 10/03 then 10/17 then we meet with her doc again on 10/22. Thanks so much for your responses. They are very much appreciated. I may mention the biopsy when we meet on 10/22, perhaps depending on the blood test results.
I'll keep in touch with you.
Many thanks,
In health,
Steve

Hi Tessa! I was diagnosed with essential thrombocythemia in 2019 at the age of 64. My family doctor tried numerous treatments to reduce my red platelet count of 1200. Nothing worked so she sent me to a hematologist. He looked at my blood work and said he knew what I had but I needed to get a biopsy to show exactly what I had. The biopsy didn't hurt, in fact, I drove to work after it was done. My hematologist put me on Hydroxyurea and aspirin. I am feel healthy using the meds. I am now 69 and started to get shortness of breath. My hematologist said sometimes the pill causes that, and he told me to take Hydroxyurea every other day. I was worried that the treatment wouldn't work as good as when I was taking it every day. But it works and I no longer have breathing issues and my ET is controlled. Tessa, I don't blame you for being nervous and you should experience the gift of children. Maybe you will only need the aspirins. I have looked at many websites regarding ET. You can find answers to your questions and even answers that you didn't have questions of. I just type Essential Thrombocythemia and do a search. I will keep you in my thoughts. If you ever need to talk just email me 🙂

Welcome to Connect, @livingwithet. Thank you for sharing your ET diagnosis and experience with @tessa and the forum. It can be very reassuring to others to read the positive results of having to take medications which help prevent the over production of platelets in patients with Essential Thrombocythemia.
When you were first diagnosed by your PCP, was this just found through routine bloodwork for physical? Or had you been experiencing symptoms?