Pv or NOT PV ?

[bbattuhann]

Hello Everybody. Sorry for my basic & bad english firstly. 5 years ago, I went to the doctor with a complaint of bruising on my nail and had a blood test. Then they referred me to hematology because HGB HCT PLT was high. The hematology doctor ordered a serum erythropoeitin test and diagnosed polycythemia vera because it was low. During this time, my Jak2, CALR and MPL genetic tests came back negative. Later, my doctor said that he would continue the phlebotomy and aspirin treatment and that since I was young, there was no need for a bone marrow biopsy. I went on like this for about 5 years. Now that I have changed homes, I had to change hospitals and doctors, and my new doctor said that I did not have PV and even that the situation was normal and I did not need to come again. What do you think I should do? I can't get information from doctors about this uncertain situation in Turkey and I really don't know what to do. When I go to bed at night, I feel palpitations, tinnitus, pain in my temple vein, but the new doctor didn't care.

My non-reference blood values ​​dated 01.09.2021 are as follows:

HGB 17.1 g/dL 12.9 - 15.9

NEU 48.3 UNIT 50.0 - 70.0

HCT 51 UNIT 39 - 49

PDW 16.1 fL 9.30 - 14.30

LYM# 3.01 UNIT 1.09 - 2.99

MCH 31.3 page 27.0 - 31.2

30.06.2021 - Ferritin 20.9 ng/mL 30 - 400

20.12.2017 - Erythropoietin 3.9 mIU/mL 4.3-29

[cmc_ufl]

Hi there. PV is almost exclusively caused by mutation in the JAK2 gene. You said your JAK2 test came back negative. I assume this means you were tested for the V617F mutation (more common). However, there is a second mutation in JAK2 that can also cause PV - the JAK2 exon 12 mutation. Do you know if you were tested for this? If not, I would check.

A diagnosis of PV in the absence of either of the two JAK2 mutations is exceedingly rare and is likely due to any number of secondary causes (not a blood disorder).

[bbattuhann in reply to cmc_ufl]

Nope not ordered that Exon 12. However, my first doctor said that even if some patients are negative, they may have pv because serum erythropoietin and ferritin levels are low.

[cmc_ufl in reply to bbattuhann]

That would be considered secondary polycythemia. I would ask to be tested for the exon 12 mutation.

[bbattuhann in reply to cmc_ufl]

The new doctor said that if HGB is 18, a bone marrow biopsy will be done. Should I just wait for some more HGB to rise to 18 for bone marrow biopsy ?I think it might be nicer for the final result if it goes up to 18

[cmc_ufl in reply to bbattuhann]

I would check for the exon 12 mutation first. If that comes back negative, there may be no need for a BMB since this, along with your negative V617F test, rules out PV.

I am not sure what doctor you are seeing, but the diagnostic threshold for PV is 16.5 for a man, 16 for a woman. I have never heard of 18 being used as a cut-off. It is important to note that many general physicians do not have knowledge of MPNs, and neither do many general hematologists. If your exon 12 test comes back positive, I would consult with a MPN specialist moving forward.

[bbattuhann in reply to cmc_ufl]

Some doctors in Turkey consider 18 and over 18.5 for men to be necessary for pv. He says it's very normal levels for over 17. Coming back to Exon 12, unfortunately they have not done anything at the moment and not even a phlebotomy was done for the 17.1 HGB 51 HCT. Do you think I should change doctor? Or should I listen to the doctor?

[cmc_ufl in reply to bbattuhann]

The values I am referencing are the formal WHO diagnostic criteria. I would consider these to be much more accurate as they are referred to as the gold standard for worldwide MPN treatment. Again, if I were in your shoes, I would ask about the exon 12 test. If that comes back positive, I would seek a hematologist specializing in MPNs.

[bbattuhann in reply to cmc_ufl]

Frankly, I think that the WHO criteria should be taken as a basis, but when this is the case, I inevitably got confused... A few weeks later, I will go to another doctor and explain the situation. I'll talk to the doctor in exon 12 like you said.

[cmc_ufl in reply to bbattuhann]

Sounds good. Let us know how things turn out. This forum is a great place for information.

[bbattuhann in reply to cmc_ufl]

Thank u so muchh !

[hunter5582]

These numbers are consistent with a diagnosis of polycythemia. About 95% of people with PV have the JAK2 mutations. Some do have the JAK2 exon 12 rather than JAK2v617f. A very small percentage of people <1% have the CALR mutation. About 4% f people with PV do not have any detectable mutation. The absence of the JAK2 mutation does not preclude PV; however it raises the question of whether you have Secondary Polycythemia or possibly an Idiopathic Erythrocytosis.

Attached are the diagnostic criteria for PV from the World Health Organization. Note that the cutoff for HGB is 16.5 for men and HCT is 49% for men. You are also symptomatic for a MPN. AT this point, I would actually think that a bone marrow biopsy would be indicated as bone marrow morphology may shed some light on your diagnosis. that will only help if the doctor knows what to look for. However, there is some other testing that could be done first.

I checked the list of MPN Specialists and only see one in Turkey (Istanbul). I would suggest trying to consult with this doc if you can.

mpnforumlist.wordpress.com/...

I hope you get answers soon.

[bbattuhann in reply to hunter5582]

Thank u for answered. But the new doctor confused me a lot. bcz told me should be hgb 18 hct 55 etc.... However, I did research after you and the WHO criteria are exactly as you said. So I decided to change my doctor. I hope that I can find a healthy treatment with a definite diagnosis, because this situation and the very different attitudes of the doctors in Turkey are now tiring me out.

[hunter5582 in reply to bbattuhann]

I hope you can find a hematologist soon. You may have to travel to find a good doc. It is worth it.

[Minu68]

The previous respondents have already given you better answers than I can, but I did want to say that your English is very good! 🙂 I do hope you get some clear answers to the clear issues with your blood counts

[bbattuhann in reply to Minu68]

Thanks ! I really wish that

[Wyebird]

So glad you’ve had some sound advice . I have ET so of no help. Good luck

[s27mmr]

Hi - really interesting topic and relates my recent journey of being diagnosed with primary erythrocytosis (not PV, albeit clinically mimics most the symptoms, has thrombosis risk but unlike PV doesn’t appear to have a high risk to splenomegaly, MF and AML (research source: oncohemakey.com/why-does-my... ))

In summary… in my early 30s, triple negative (JAK2, CALR, MPL) and BMB came out fairly clear, but a history of elevated bloods (RBC, HCT, etc) and low serum EPO (~2.5). Next steps are to investigate whether this is idiopathic or familial/ congenital erythrocytosis… where the mutation could be to do with EPOR receptors. Famous case - Eero Mäntyranta (Olympic winning skier #geneticallysuperhuman). Useful research on this: mdpi-res.com/d_attachment/g...

Symptoms: similar to most people here, extreme bouts of fatigue, night sweats, migraines with auras etc. Upon reflection has been going on for the last ~20 years or so.

Treatment plan: low dose aspirin, regular blood tests and potential phlebotomy to manage blood levels.

On a separate note - this forum has been amazing in my recent journey in better understanding the issues and symptom management. Thank you everyone for your contributions and hopefully we can help the science around the subject evolve further to help future generations.

[bbattuhann in reply to s27mmr]

Hey. Thank u so much. your treatment plan like me