Undiagnosed after 17yrs!!!

[Lrover]

I’ve been told by my new consultant that I don’t have an MPN because the BMB came back inconclusive so she doesn’t have a diagnosis of PV for me. Even though my platelets are average 580 and have been for 20 +yrs prior to pregnancy she thinks it’s all pregnancy related (daughter is 17). I’m sure that’s called Thrombocythemia!! Which is an MPN. She wants to refer me back to the doctors who didn’t pick up on it 20yrs ago basically to get me off her books. Any advice very welcome because I’m really worried.

[hunter5582]

A few technical terms to know. Polycythemia Vera is diagnosed based on a number of factors, including the presence of the JAK2 mutation and erythrocytosis. PV may be accompanied by thrombocytosis and/or leukocytosis. Essential Thrombocythemia presents with thrombocytosis only. ET can present with three possible mutations, JAK2, CALR, MPL. PV and ET both have distinct features in bone marrow morphology.

Sometimes it is not clear which if any MPN you have. This could be for any of a number of reasons. Inconclusive BMB results do not mean the same thing as negative results.

The best advice is to consult with a MPN Specialist. MPNs are rare disorders and most doctors have little experience with them. Here is a list. mpnforum.com/list-hem./

Hope you get a clear answer to your diagnosis soon.

[PhysAssist in reply to hunter5582]

100% what he said!

[monarch5000]

Not much we can say without knowing your other blood counts (besides platelets), your symptoms and the key findings of your bone marrow biopsy.

There are a couple inexpensive blood tests you could have done to help you decide if you have an undiagnosed disorder or malignancy of some kind. 1) An erythropoietin (EPO) blood test. If the test result is low (2-5) that would suggest you might have primary polycythemia vera. 2) A Lactate Dehydrogenase (LDH) blood test. If the test result is normal (roughly 100-200) that would suggest no active blood cancer. But a higher test result, especially 300 or more, would suggest you have an undiagnosed malignancy or disorder of some kind.

[PhysAssist in reply to monarch5000]

Hi Monarch,

I agree generally, but I'm not so sure about the LDH- Although my MPN MD says that I met the criteria for PV long before my diagnosis- my LDH was ALWAYS normal- at least until I started HU and then Besremi, and now it's always somewhat elevated.

Just my personal experience, nothing else.

Best,

PA

[monarch5000 in reply to PhysAssist]

After PV patients have been on Besremi (or any interferon alfa) for 6-12 months LDH typically starts trending downward. Something to look forward to if you've only been on the drug within a year.

[PhysAssist in reply to monarch5000]

Thanks!

Now , if only my Hct would behave- it was 46 2 weeks ago, and despite my 2nd Besremi at 350 mcg, it was up to 51 again yesterday.

Best,

PA

[monarch5000 in reply to PhysAssist]

months to years may pass before interferon lowers HCT.

[mhos61 in reply to PhysAssist]

Agree on the LDH comment. My levels are normal at around 150. I equate this to low inflammation/low symptom burden.

I have ET and am on low dose hydrea 5x500 weekly for the past six years.

[Flynn2107]

My Dr did an EPO blood test in addition to BMB. If your blood counts are high and EPO is low that can help with your diagnosis. If your Dr did not run an EPO test on you and you did not get a genetic panel run on your Bone Marrow then you need a new Doctor. Find a specialist from Hunter5582's list.

[Lrover]

Hi. Thanks for advice. I’m in the UK so a bit different over here but will investigate 👍

[Jimbosan]

I have seen a series of oncologists and hematologists and I never got much of a diagnosis as I never fully meet the WHO 2016 MPN Diagnostic Criteria, which spells out the difference between PV, ET, and MF. Last couple of years I have been seeing an MPN Specialist. I'm now diagnosed as MPN-U or unclassifiable but symptoms are being managed well. You like many of us will have to learn to become an MPN specialist of sorts so you can guide your own care perhaps. Good luck to you and your new baby! MPNs do not seem to be inheritable.

[william-Indo]

If you don't have the mutations of gens JAK, CALR, MPL, you are not MPN.

Some condition may look like PV but not Polycycthemia Ruba Vera.

[PhysAssist in reply to william-Indo]

Specifically ,JAK2