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FYI, my I'm an almost 78 year old white female, that other than having my H&H (Hemoglobin and Hematocrit) slowly begin to be outside of the normal range in 2016, had been fairly healthy. By that I mean normal weight, vital signs all fine, and have only taken "Synthroid" since the late 1970's due to extensive throat surgery. I've always been very medically oriented from having done canine special need's rescue for four decades. So I keep a daily diary of my BP, Pulse Ox, and I really love… read more

June 11
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Answer Summary

A member with a possible PV (Polycythemia Vera) diagnosis reached out for guidance on getting a more accurate diagnosis, especially since she... Read more

A member with a possible PV (Polycythemia Vera) diagnosis reached out for guidance on getting a more accurate diagnosis, especially since she tested negative for the JAK2 gene mutation and her levels have been normal for over a year. Several members recommended seeking an MPN specialist rather than a general hematologist, shared links to MPN specialist directories, and mentioned that a bone marrow biopsy is often the gold standard for confirming PV. A recurring theme was the importance of advocating for better care, with members sharing that abnormal autoimmune blood tests and a research-scientist friend's insight may point to a different condition entirely.

A myMPNteam Member

As others already said, get a new hematologist. there is no reason to put up with a snippy doc who does not answer your questions. It is important to see a MPN Specialist rather than a regular hematologist. MPNs are rare diseases and optimal care requires a higher level of MPN expertise. Here are two lists.
https://mpninfo.org/medical-information-sources...
https://pvreporter.com/mpn-specialists-cancer-t...

It sounds like you have been diagnosed as JAK2 negative PV. this is normally only done with a bone marrow biopsy to confirm that bone marrow morphology matches PV in the absence of a JAK2 mutation in peripheral blood. This is usually done after the known causes of Secondary Polycythemia have been ruled out. I can understand the reluctance to have a BMB. People report varying levels of pain associated with it. It may be possible to opt for additional pain management if you move forward. Some report using nitrous or a low-nausea risk light sedation.

In terms of additional blood tests, there are more sophisticated NGS studies that can detect non-canonical JAK2 mutations, other than the known pathogenic v617f and Exon 12. This falls outside of standard clinical practice but it is likely that there are some other JAK2 mutations that are pathogenic and not in the standard clinical array. It is also worth doing a complete MPN myeloid panel that looks at the known non-driver mutations that impact MPN presentation. this is one example https://oncology.labcorp.com/ngs-panels . A MPN Specialist can best advise on what testing is most appropriate for your case.

Wishing you all the best.

National and International MPN Centers - MPN Education Foundation
National and International MPN Centers - MPN Education Foundation
MPN Expert | #1 MPN Specialist Resource | Cancer Treatment Centers | PV Reporter
MPN Expert | #1 MPN Specialist Resource | Cancer Treatment Centers | PV Reporter
Labcorp NGS Panels for Hematologic Cancers
Labcorp NGS Panels for Hematologic Cancers
June 23
A myMPNteam Member

Hello change your Hemotologist Oncologist Dr. I saw about 3 different ones early on first to get the correct diagnosis if it's truly PV or a type of MPN . A Bone Marrow Test will clear the air of what you have. Or is it an autoimmune disease? As your scientist friend is observing .
Although with PV/MPN , energy and immunity levels do go up and down ... sensitivity to chemicals as well.
I outlived my first & best Hemotologist Oncologist, he had discharged me as I was almost WNL CBC blood tests.
I'm on my 4 th Hemotologist Oncologist and he's great !
I am well , I keep fit , energetic and living a full lifestyle.
I still get checked 2 times year cause I still have PV Polycythemia Vera MPN always will but it's a mild case

But early on it wasn't! PV with Essential Thrombosis ET , but that's resolved
Take care ! Jana

June 16
A myMPNteam Member

Hi Roxanna. An MPN specialist is a hematologist-oncologist who has an additional focus/training/research in MPNs. Just because your hematocrit is high or controlled doesn’t mean you have polycythemia Vera. Polycythemia is different and may be caused by something else based on what I’m reading.

You say you have a good relationship with your primary care provider. I don’t know if you can ask to be referred to another hematologist or an mpn specialist.

June 14
A myMPNteam Member

I assume the genetic test ruled out the JAK2 gene mutation? My understanding is that the gold standard to definitively diagnose PV is a bone marrow biopsy. I haven’t had one because i have the JAK2 mutation, had a blood clot and my hematocrit was rising. That is enough to make the diagnosis without a BMB.

I read on this site that MPNs can look similar to an auto-immune disorder and I would think the opposite is true.

Are you able to be referred to an MPN specialist or at least an hematologist who is willing to work with you?

June 12
A myMPNteam Member

And it's almost impossible to find an MPN specialist in my area, so my friend suggested that I ask my female Neurologist (that I see next week) if she knows of any she would recommend. I see her for Aura Migraines and Ocular Neuro issues, not anything to do with PV, FYI only.

June 23

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