I was diagnosed with ET after Jak 2 positive and a platelet count of neat 1 million. November 30th I had a heart attack and everyone in the hospital kept saying my blood was very viscous but no testing was done. I followed up with my GP and he ran more blood work and platelet counts were same. He referred me to a hematologist/oncologist and he tested my blood work for the Jak 2 gene mutation. Found out the results 2 weeks ago and he prescribed 500 mg hydroxyurea and the alluprinol for gout. I started them a week ago. I have no side affects but tired. My question is can I be confident with the diagnosis without a bone marrow biopsy? I am considering a 2nd opinion. Any thoughts?
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mbr8076
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I was diagnosed with just the blood work done for the jak2 gene mutation 3 years ago for et which was positive . I too have never had a bone marrow biopsy and was told it wasn't necessary . I think I read somewhere that they get enough information from markers in the blood test and if symptoms change then sometimes a biopsy is done to see if any progression is occurring ..... I'm sure some on here that have had a biopsy will fill you in more. Best wishes
The information you provided reassures me. I was told it wasn’t necessary either but I just wonder how they determine whether PV or ET since my red and white cells were borderline high.
I was diagnosed with PV 12 years ago. Jak 2 positive. I also have a bit of ET as high platelets. I only had a bone marrow biopsy 4 years ago before starting hydroxy as a baseline for the future. I have not had one since. Don’t worry, they are not necessary for diagnosis.
Hi. I had a bone marrow biopsy done to see if I had ET or MF. And I had MF. BUT my platelets were only about 650, so not that high for ET. And I’d had clot problems before: I’d had pulmonary embolisms. The treatment ( hydroxyurea to start with) was the same whether I had ET or MF. Me, I’m glad I knew.
Mine was more painful than most, as I had a high level of fibrosis, but its only for a few minutes. Some hospitals offer you sedation or gas-and-air while its being done, and everyone gets a local anaesthetic.
I had it done by the consultant, which I’m glad about as I knew that it had been done properly..
I’d have liked sedation but it wasn’t on offer at the East Surrey where I had it done, and if you have sedation there’s a recovery period and it all takes longer.
Hope this helps. Everyone is different , but we all live to tell the tale.
It made it clear that it was MF not ET. It was all part of the same diagnostic process: I first saw the haem in Dec 2016 and from the number of blood tests that he had ordered even before I saw him I suspected that there might be donething serious wrong. At that consultation he gave me the booklet about ET, explained what it was and said that I needed a bmb. Because the bmb was only done just before Christmas, I didn't acrually see him to get the news that it was MF untill mid January. I rember him saying - I need to give you another booklet- and gave me the MF booklet. By then I’d had time to do dome research and asked him for the current best estimate of prognosis. Which he gave me.
Can only speak from experience but my BMB brought up things the blood tests hadn’t. This was unusual, according to my Doctors, but a BMB does provide a fuller picture.
I had a bone marrow biopsy to diagnose my PV even though I was JAK2 positive. I think however as somebody else said it was used a baseline for the future and to check if there was any fibrosis.
I think it’s a question of degree. BMB is significantly more accurate but even then open to interpretation - different pathologists can sometimes reach different conclusions from same slides.
Personally, if I was clearly plain vanilla ET, I’d probably not bother with a BMB.
If borderline high WBC/RBC, I’d be a bit more inclined to find out more about what’s going on, and set a base line for the future.
Ask whether this would make any difference to your treatment plan? I doubt it, at least in the short term, but might be worth knowing at some point. HU is best drug for bring down your Platelets quickly.
Yes, that is my concern. My GP thought I might have PV but the hematologist said ET. Having read that all the MPN’s can have a JAK2 positive I was not convinced of the diagnosis. Has anyone gone for a 2nd opinion?
Do you by any chance know your JAK2 Allele Burden? That’s the % of JAK2 +ve.
ET is normally around 25% very roughly, PV circa 45%. I have PV and mine is 60% so not exact but does give a general steer. ET generally significantly lower than PV.
Hi there, was diagnosed two years ago and before I started HU which was chemo I wanted to make sure I had ET. I have seen many conferences with the experts that say people can have Jak2 and not have an MPN and also I was told it can mimic PV a lot of times they say. Also I think it is good to get a baseline, as an example I knew one girl who had ET or thought she did, then after a year she was getting awful symptoms, she went all the way to Arizona to see Dr Mesa who then said she had MF even with high platelets which remained high and she was Calr. The problem was is they did not know if she had ET originally and progressed to MF because she never had that baseline BMB. So there is all sides to the story. Your HCT and RBC are a tad high if it were me I would get one, they really are not bad, but Maz on here is the best person to ask she will run it by the expert.
I was diagnosed with ET without a bmb too. I, like you question this at times.
My haemagloben and haematocrit were both steadily climbing in the six months prior to this ET diagnosis. Haemagloben 16.1, haematocrit 47 and platelets 500 at diagnosis. Red and white counts fine. I was put on hydrea which obviously brings all counts down.
I can’t help but think at times if I were in the early stages of PV, it has now been masked by hydrea. However, I have read that ET patients with the jak2 mutation can have higher haemagloben/ haematocrit levels.
It’s a difficult one. I’m in no rush to have a bmb yet although a baseline for future reference wouldn’t be a bad thing - but the treatment I suspect, would remain the same.
When was this blood test? Are these your latest bloods?
Your RBC is okay, top limit 5.8 from memory?
WBC looks high but have you had infection? I assume you have had multiple recent blood counts, is WBC consistently high?
What is your HB?
No % for JAK2 +ve may mean it was very low. Might be worth clarifying with your dr’s sec.
Bottom line, I’d be asking my consultant about merits of a BMB if my WBC was consistently high since unusual for ET. Also I’d like to find my % JAK +ve since a bit of a steer) but not conclusive)
Just wondered whether your haem is an MPN specialist. Your haematocrit level seems a little high.
I’m up at Guy’s and I’ve had two BMBs in the past five years. The first when I was diagnosed and the second when the diagnosis changed from ET to PV about eighteen months ago. I was given the option of not having a BMB but the consensus was it would provide a valuable baseline and a more in-depth analysis of how the disease was manifesting itself.
Quite honestly the BMB whilst not something I would actively choose as a leisure activity, was certainly not a major trauma. The first BMB confirmed that although I was treated as having ET I didn’t actually fit the WHO classification. The second confirmed the Prof’s revised diagnosis that infact I had PV with raised haematocrit and raised platelets. The BMBs aren’t infallible and the detail of the readings will depend on the particular sample. Apparently they use to take samples from both hips but abandoned that as being in no one’s interests and unnecessarily distressing for the patient!
My experience is that it is a valuable tool particularly with regards to disease progression. Perhaps worth pursuing with a specialist MPN centre if you can get access to one.
I’m having a bmb on Monday. I asked myself to have one after I have had ET for over three years. The reason is that it seems to most leading MPN specialists recommend it. My consultant was ok with it as she said the research team would be pleased to get new material. I’m a bit nervous though 😱
Thank you, Maz. Can you explain why there seems to be more replies from people across the ocean. I live in USA. Has there been more research done there than USA?
Hi, we are in the UK, though we do have members from around the world, but the majority of us live in the UK. Research is being undertaken all over the world. Maz
I had my first BMB last week, I had no pain whatsoever with the test. I did take 25mg of benadryl 30 minutes before they started. I don't know if that helped or not but it was what they recommended. Alert the whole time. The test was no big deal, and my hematologist said it confirmed what he thought was ET but as my Hct and Hgb are slowly rising each month I think I may be developing or already have PV.
Anyway, I don't think it can hurt anything and it may help confirm or possible change your diagnosis. If you want to know then go for the BMB.
I assume that was the reason. It did make me drowsy and probably a little more relaxed. I actually took one of my wife's unisom tablets instead of the shot they were going to give me, they said it would cost me a lot less by taking my own pill instead of the hospital's injection.
A bone marrow biopsy is more information which I think is a good thing. A second opinion is more expert eyes on you which I think is a good thing.
With that said, I had one that was non contributory to my diagnosis. I am triple negative and my biopsy ended up being an undersized sample. About all it told me was that I have mildly increased fibrosis and absent iron stores in my sample (but multiple iron panels have shown I am nowhere near anemic).
I sought out a specialist (Dr. Prchal) and he wasn’t even interested in my biopsy. In his opinion they provide very little information about ET.
Without a confirming biopsy no one can meet WHO guidelines for a proper diagnosis, but plenty of doctors are confident enough to go on without one as the treatment plan doesn’t change either way.
In my case, I have presumed ET. I continue to be on the lookout for secondary causes but my platelets are elevated 12 years now. Where you have the mutation I think that an MPN is likely though no one can difinitively say which MPN you have.
Since all your cell lines are a bit elevated or high normal, I would give the BMB careful consideration. I just had one several weeks ago, when I consulted with a specialist. Diagnosed with ET 4 years ago, but all my cell lines are marching up, waiting on the results now.
Everyone is different, but I want to know everything, so was happy to have my second one. The procedure is not that bad. The BMB provides a lot of specific information, not available from blood tests, like early fibrosis.
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I am thinking perhaps treatment is the same for all MPN’s at least for ET and PV.
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