Connect
← Return to Essential thrombocythemia
Discussion
Comment receiving replies
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)
Replies to "My wife, who is 72 was recently diagnosed with ET. She had a blood test prior..."
Connect
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?