Diagnosis update - PV - in limbo

[LittleLuna]

Hi

So had my appointment with yet another different haematologist today following my BMB.

Still no further forward. Apparently bone marrow aspirate was non cellular so nothing to show from that. Spongy marrow shown an small abnormality but haem consultants think its no conclusive. They have said they will ask pathologist to look at it again and confirm if they agree with their take - whatever that is. No need for second BMB.

Good news is my bloods were all at normal level. First time my haematrocit was normal for some time. Saying that it is only marginally above normal usually - not sure if that means anything. They tested EPO which was normal.

Apparently my bloods have been high since 2016, first I heard of that is today. So I have just submitted a request for a copy of my health records. Time for me to review and look at timelines myself.

I felt today, because my levels were normal and only a little abnormality of bone marrow, that I was just passed off, left in limbo. No discussion regarding previous plan to discuss with the one MPN specialist in Scotland.

Part relieved but also want to know whats next. I know there are so many of you in the “is this an MPN, not and MPN or what is it situation”. How do we get past that and get further investigation.

I do not understand why consultants do not refer their questions to their colleagues before our appointments, thats 3 times now, back and forth to clarify tests.

I have attached my last few blood results, only info I have been provided.

I would appreciate your thoughts and advice. I don’t want to me chasing Dx for next few years, not getting travel insurance cover due to limbo Dx and wondering if every symptom ai have could be PV or just something else.

Moan over

[EPguy]

To my amateur view, your numbers don't look like an MPN, and your BMB doesn't show any.

Did you get your follow up Jak2 result? Do you have your 2016 results? I had some from that exact year and it did show rising PLT well before my Dx in 2020.

Are your symptoms still the same?

You're right that you should get every report they have on your results to be better informed, and get an appt with that MPN specialist who can give 2nd opinion on your BMB and all the other results.

[LittleLuna in reply to EPguy]

Hi EPGuy

Yes, my second JAK2 V617f came back same as equivocal so shows some markers but not high.

I am interested to know what the abnormalities in spongy marrow are if not MPN related.

30 days to get my records so waiting game for now.

I am somewhat relieved but limbo is not good wither. So many here know and are sitting in same position. Just want to be heard, tested and get answers.

Thank you

Adie

[EPguy in reply to LittleLuna]

If your allele (Jak2) result was "equivocal" it should lead your MPN specialist to order a different type of test. Esp for very low or unusual results, there are typically other more expensive tests they can do to get answers.

Agree on wanting to know any abnormalities. I had a mysterious inherited mutation that is not hematological and seems no info on it anywhere. I've opted to not think about it.

Did you say here that you have had venesections?

[LittleLuna in reply to EPguy]

Hi.

I have not had any venesections or any form of treatment.

What tests can be run for more definitive Dx?

I had genetic tests done but not been given results yet.

Thank you for advice. So appreciate it

[EPguy in reply to LittleLuna]

Lots of details:

Your Jak2 test is one of the genetic tests. The most typical 2ndary test they do is Jak2 Exon 12 if the regular one (Exon 14 V617F ) is absent or uncertain. They call it "reflex" to other tests which I think means "next option" if 1st option is not found. In your case they should have your Exon 12 result in the data. If not you need to ask why. For suspected ET they "reflex" to CALR and MPL if there is no Jak2 found.

In this description below of a common test (ddPCR) they note one possible outcome sounds like could be yours: <<Low positive JAK2 V617F T-allele is detected but is below the quantifiable limits of the test>>

and here are all their qualifiers as to why the answer could be uncertain:

<<Variants in genes other than JAK2 are not detected. Variant alleles of JAK2 other than V617F (c.1849G>T) are not reported.

Samples with JAK2 V617F mutations below the limit of reporting may not be detected.

Results of this test must always be interpreted in the context of morphologic and other relevant data and should not be used alone for a diagnosis of malignancy.

This test is not intended to detect minimal residual disease.>>

arupconsult.com/ati/jak2-v6...

--

But it's also possible you had an older type test qPCR, or dPCR, rather than the more modern ddPCR. Then the exact results would be more uncertain.

<<ddPCR is unparalleled when it comes to replicating, amplifying, and accurately quantifying nucleic acids.>>

mogene.com/what-are-the-adv...

I'm learning here too which I like to do, but of course your MPN specialist will know more than any of us.

[Hopetohelp]

I’m sorry I can’t help but thought I would mention that here down south haemaglobin range for a woman is 110 to 150. My haemo wouldn’t be happy with a result of 157. Maybe in Scotland they interpret results differently but you think they would be the same universally. It might be worth keeping in mind next talk to haemo. Good luck

[LittleLuna in reply to Hopetohelp]

Thank you. Yes it makes no sense different ranges. I will look into this further.

[hunter5582]

Hematocrit levels are supposed to be gender adjusted . The normal range for women is lower than for men. You will see slightly different reference ranges, but they are all pretty close. Here are a few examples.

Adult Female 0.37 - 0.45 (37-45%). nbt.nhs.uk/severn-pathology....

For women, the normal range is slightly lower: 36%-44% google.com/search?q=hematoc...

My hematology lab uses 34.1 - 44.9% for women.

At 45.00 you would be either just over or at the very top of the reference range for a female. Given the history of erythrocytosis, you do need an explanation for why it is happening. It could have a relatively benign explanation. However, it should be explained.

Did you ever get the results of all your driver mutations back? Regardless, you should definitely have your results reviewed by a MPN Specialist. You need and deserve an answer. Hope you get one soon.

[LittleLuna in reply to hunter5582]

Hi Hunter. If you mean by driver mutations, (not sure what that means). My JAK2 V617f was done twice and result said “equivocal”. Today I found out what that meant - not on high level or low but in the middle somewhere so not sure what that means.

I am frustrated with unknown and fact we are left hanging. It is all so confusing. I hope once I get all my records I can get confirmation of my results going back to 2016 to see whats there.

In UK hematocrit upper level for female is 0.45. Not sure why it differs where you live, no sense to that, in my opinion

Thank you for your advice. I really appreciate you and your extensive knowledge. An amazing support to this group.

Adie

[hunter5582 in reply to LittleLuna]

My understanding of equivocal is that there were some cells detected with the JAK2 mutation but not enough to make the determination due the level of sensitivity of the assay used. It means the result is neither positive nor negative.

The driver mutations (JAK2, CALR, MPL) are the three gene mutations known to cause MPNs. The JAK2 mutation can be either JAK2v617f or JAK2 Exon 12. About 95% of people with PV have the JAK2v617f mutation. A few % have JAK2 Exon12. A very small number have CALR. Note that CALR is usually associated with ET rather than PV. MPL is associated with ET.

Given your lab results and overall presentation there is not question you should seek consultation with a MPN Specialist. Suggest you do whatever is necessary to make this happen. You deserve a clear answer to your status.

[LittleLuna in reply to hunter5582]

Thanks Hunter.Why can’t the consultants explain “equivocal” like you. That makes more sense now.

Copies of all my health records requested now. I have made an appointment with Dr Mark Drummond privately, just need to get referral letter. 1st available date is 10th Oct so bit of a wait but it will give me time to get my documentation ready and arrange bloods again before my appointment.

Thank you

Adie

[Hopetohelp in reply to LittleLuna]

It’s so strange. I am looking at my blood test report and it says for me ,a woman, Haematocrit range .34 to .50

[LittleLuna in reply to Hopetohelp]

Thats why its all so confusing. Check this link.

Not sure where to find correct range used in Scotland Uk or England and do they differ

geekymedics.com/reference-r...

[hunter5582 in reply to Hopetohelp]

That certainly is confusing. 0.34 would be the floor for a female. 0.50 would be the ceiling for a male. Perhaps the reference range is not clearly indicated on your lab sheet. It is not helpful when our lab reports are not clear.

[Hopetohelp in reply to hunter5582]

There you go Hunter. Really weird isn’t it that they can vary so much

.

[hunter5582 in reply to Hopetohelp]

Looks like they got lazy and did not tease out Females and Males on the Reference Range, Better to give patients all the info they need.

[Hopetohelp in reply to hunter5582]

I have always assumed this is female ranges personalised as female because I am female. Will ask my haemo at next appointment 😞

[Cakeface]

It must be very frustrating for you. Did your bloods go back into normal range without venisections? Have your symptoms improved? If you've not had a diagnosis of PV, I can't see why you would need to declare it for travel insurance

[LittleLuna in reply to Cakeface]

Hi Cakeface

Yes, venesections, so bloods are normal, or are they? I honestly dont know as ranges differ across areas.

If you are under going tests and been advised they believe you have an MPN then you risk cover being refused for any claim if something happens. Only at point of a claim you find that out. Insurance companies will do anything to not pay up. Mine have even excluded “endometriosis” as they have no clue, not related to anything thats being investigated but they link it with blood. 😂 it is laughable to be honest.

Adie

[Cakeface in reply to LittleLuna]

I can understand why you're so frustrated.😤 I hope you soon get answers.It seems the prime objective of health insurance is to do everything possible not to pay a claim

[ainslie]

If it was me I would try to see a MPN specialist to clarify if you have MPN , your Hct is a bit high , so keep a close eye on that as high Hct is thrombosis risk. If you can see a MPN specialist probably wise to get them a copy of the BMB slides because one Haem can interpret the BMB slide completely differently to another.

[Nrl303]

what was your EPO?

[LittleLuna in reply to Nrl303]

hi Sorry for late reply. They do not seem to take EPO reading. Just checked some of my more recent tests

[Nrl303 in reply to LittleLuna]

Sorry for not being clear, I meant before you were diagnosed

[LittleLuna in reply to Nrl303]

i dont know. I will need to find out