Essential thrombocythemia

[Gurimalla]

When my daughter was 12 years she started to have migraine. At the same time the platels went high, Between 400 -539 for 11 months. Then they fall back to normal.I talked with many doctors about it and they said not to worry about the platels because children have elevated platels all the time. Over the years my daughter have had headace,tired,dizzy, feel like fainting and burning forearm. Also when the platels is normal.Now she is 20 years. January this year she got tired.feeling unwell,loose consentrasion.dizzy all the time. She went to the doctor in early May and the platels count was 512 . All the other bloodtest normal.New test in August 435. Then sent to a hematologist in september. Then it was down to 345 and all test normal. My question is ; Can you have Essential thrombocythemia and a normal platel count ?

[hunter5582]

Many of the symptoms you report are consistent with ET but typically platelets stay elevated over 450. What you are describing could also be secondary (reactive) thrombocytosis. This is where some other condition causes the elevation in platelets along with the other symptoms. There a number of potential causes of secondary thrombocytosis.

emedicine.medscape.com/arti...

The doctors should already have ordered the genetic test (JAK2, CALR, MPL) to help rule out ET. In addition, there would be a Complete Metabolic Profile, iron panel, and a number of other tests to look for possible causes of the intermittent thrombocytosis.

Hopefully your daughter can be seen in a major hospital center that has access to MPN Specialists. There are a number of specialists that may be needed to sort this out. Suggest she go back to her care team and seek the appropriate consultations.

All the best to both of you.

[Gurimalla in reply to hunter5582]

Well she went to a specialist in a major hospital, But then the platels were down to 345 so he said everything is ok. Thats why I wonder if people with ET can have periods with normal platel count. I told my daughter to go to the doctor once ot twice a year to to take new bloodtest. Her doctor took a lot of tests in May and August but only the platel count was high.

[hunter5582 in reply to Gurimalla]

It can be very tricky to figure things like this out. MPNs are not monolithic diseases. They vary quite a bit. It would make sense to consult with a MPN Specialist given what is going on, but this may not actually be a MPN. It may be secondary thrombocytosis. Note that while MPN Specialists are hematologists, not all hematologists are MPN experts. Just in case you have not seen it, here is a list. mpnforum.com/list-hem./

There is no question that something is going on. It is important to find what out it is. hopefully your daughters will persist and find an answer. to what is going on.

[Gurimalla in reply to hunter5582]

Thank you for your reply. Since the doctor sent her to a hematalogist and there alle bloodtest were normal I dont know what to do. Thats why I want my daughter to go to the doctor regulary to take bloodtests so we can catch it up fast if the platels rise again. But I still wonder if people with ET can have periods with normal platels.I live in Norway

[hunter5582 in reply to Gurimalla]

Tracking the blood tests on a regular basis sounds like a very good idea, The history of variation should help the care team figure out what is going on.

I note that there are no MPN Specialists listed in Norway. The closest is in Denmark. I do not know how your medical care system works, If it is possible to consult with a doctor in Denmark, Dr. Hans Hasselbalch is one of the most well known MPN experts. While it is not clear whether your daughters has a MPN, it would make sense to consult with a MPn expert. Perhaps the MPN Specialist can help to figure things out.

mpnforumlist.wordpress.com/...

All the best to you both.

[summerdown in reply to hunter5582]

12 is very young and platelets are not very high. check with a hemo for ET and Jak 2. make sure your daughter is not dehydrated ( fluids important to the blood) and has a good diet with plenty of fruit and veg. don't let her get overweight - easy to put on pounds in those early teenage years and not good for ET. Having Blood tests can be stressful, more so for a child so do what you can to improve health and fitness.

[Mostew]

i had many symptoms from childhood till diagnosed with ET aged 64. Such as fainting fuzzy head .

if you can afford it I would suggest she see anacupuncturist or ayvedic Dr. Or functional Dr. If there are any good ones near you.

Also follow a natural diet ( with the odd treat of course !) Anti inflammatory Mediterranean .

has she been tested for underactive thyroid. ?

[Wyebird]

hi, it’s a worrying time for you both. My immediate reaction to reading your post was secondary ET. Your daughter obviously has something wrong.

I’m not medically trained but I do think it’s worth asking if she has a mutated gene.

I read Hunter’s replies to your post and think that there is nothing I can add. As always he has offered sound advice.

Good luck.

[MCBR2]

I also had many symptoms since childhood and into my 20's. Eventually got diagnosed with polycythemia aged 49 now they are saying it is ET. Would it be possible to ask your local GP/Consultant if she could take aspirin when she gets symptomatic? I would still proceed with investigating to see if there is an underlying cause. In either case for me after many tests there are no conclusion, but I am treated with a venesection every 8 weeks and take an aspirin daily. I really sympathize as I feel chunks of my life have been affected while I have not been well. Good luck to both of you.

[Cambria61]

I was officially diagnosed with ET in 2018 after many years of up and down platelets and severe fatigue, headaches, etc. I was first tested for the 3 most common mutations ( JAK2, CALR, and MPL) I was negative for all 3. The day of my bone marrow biopsy, my platelets were normal! Biopsy still showed I had ET. I would advocate and insist on mutation testing AND a bone marrow biopsy to confirm.

[Gurimalla in reply to Cambria61]

Thank you. My daughter is now abroad and will be back for Christmas. Her platels were 345 september 2022 and 300 in february 2023. In June 2023 they were 475. Just before she travelled abroad. She went to a hematalog in September 2022 after her platels were 512 may 2022 and 425 in august 2022, When she saw the hematalog the platels were down to 345. I dont know what tests he did but he did not mention bone marrow biopsi, I will send her to the doctor whwn she comes home to do a new test, If it is still high i will send her to a private hematalog. I wonder why the doctors dont take this seriously.