Getting an et diagnosis

[Dbh1962]

Hello to all, just wondering if anyone had an et diagnosis without having a bone marrow biopsy , I’m told I need one for diagnosis but I’m just too scared to have one , thanks in advance

[Raphael_UK]

Hi, I had an ET (MPL) without a BNB, my understanding is that a BNB to check if there is a progression to MF and to check the rate of progress to the levels of MF.

[Dbh1962 in reply to Raphael_UK]

Thankyou Raphael -uk , I shall approach my haemo again on the subject next month when I see him , I’m reallly hoping that I won’t need the bmb

[Lena70]

I was diagnosed with PV JAK+ on Monday. I have not had a BMB.

[Karol_Rua]

But, in my opinion, having a BMB could provide baseline data for you so progression can be monitored. I had my first BMB in 2001 and my latest one in 2018 was compared and contrasted with the first to analyse any changes/progression etc. Just a thought...🤔

[Cookiebaker]

I was diagnosed one year ago with ET . I also have MPL mutation. I have not had Bone marrow done . I wish I would have one to check on fibrosis since my sister passed away from PMF. My doc said I didn’t need one yet.

[Lorrmac]

I have ET for three years and I have never had a BNB. I was diagnosed with a blood test.

[JojoWonder]

I have been diagnosed with ET CAL-R and I haven’t had a BMB. As my platelets were well over 1000 and I had the genetic testing that showed the CAL-R mutation it was a foregone conclusion that I had this disease. I also made a successful claim for critical illness insurance without having to have one. Of course your case might not be so straightforward.

I’m personally not keen on having a BMB but not for the reasons that most people on this forum would prefer to avoid it for, pain, discomfort etc, but more because I’m 43 and want to enjoy my life and knowing that I had any disease progression would play on my mind especially as there’s nothing I can do to change it. My Haematologist is in agreement and at this stage see’s little benefit in doing one. Yes, there’s an argument that you have a baseline test to chart if the disease is progressing but from what I’ve been told these results are subjective. Different Haematologists will assess and grade differently so no change or small changes can be misconstrued.

I think it’s a personal choice. I also think people are more likely to report if they’ve had a bad experience with a BMB on a site like this than if it was fine. I’ve heard of many people who didn’t find the procedure that uncomfortable at all.

Good luck with everything,

Joanne x

[Chaz1]

You don't need a BMB to be diagnosed unless your case is more complex which might be why your Haemo is suggesting one.

Many people do ask to have one early on to ensure they have their baseline on record for the future as it's much easier to see progression years down the line with a baseline sample to compare it to.

They also tend to ask if they can use part of your sample for research purposes so it could be helpful in the long run for everyone so that could be something that helps you get through the procedure.

It perhaps is worth asking your Haemo for the reasons as to why they feel you need the BMB, is it because its unclear which MPN you have.

[AndyT]

If you have one of the mutations such as JAK2 or CALR a BMB isn’t always needed but can help to clarify which MPN you have, as for instance ET and early stage MF can look very similar based on blood results alone. A BMB can also be useful as a base against which to track any later progression.

I had a BMB when first diagnosed as there was no mutation testing then - it was no big deal and I drove home straight afterwards so don’t be too worried if you do have to have one!

[nodmeister]

I am triple neg E.T. which was shown in my 1st biopsy. A few months ago after 7 years I had another as new mutations had been discovered.

What we did learn was that I now also have an MPS. Quite an important discovery really.

Regarding the BMB, I recommend having it done for definitive diagnosis. The thought of it is more painful than having it done. I found it a bit 'uncomfortable' with a bit of an odd sensation. 5 mins after I was skipping out of the door, well walking, with no adverse effects.

You can use it when you get home and tell everyone you have to rest and get everything done for you😁😁🍸

[Timjonze]

Hi there. I would advise you to have one if you can possibly face it - it’s the only way a doctor can know truly how your marrow is functioning (blood results just provide clues) and acts as baseline data for any future changes. A BMB is not fun and is certainly uncomfortable but it only lasts 30 minutes and it’s definitely bearable. I’ve had two and wasn’t too nervous for the second one because I knew it wasn’t so bad. If you can, ask for an experienced nurse to perform it - a young doctor did my first and made a bit of a meal of it due to his lack of experience. Good luck!

[Ebot]

Hi there. You don’t necessarily need a BMB to diagnose an MPN but it’s a really useful method of providing a baseline to monitor and understand how the disease develops or changes over the years.

I’ve had two. The first when I was initially diagnosed. The second when my counts suggested that I had PV rather than ET.

I wouldn’t describe either procedure as my leisure activity of choice (!) but they were entirely bearable. I think BMBs just sound a bit scary. The reality is pretty much straightforward. It doesn’t take long. It can be a bit sore afterwards but nothing major.

So, I really wouldn’t angst too much. The information a BMB can produce can be incredible valuable both informative - and reassuring. I would definitely go for it, if offered.

[Kari1961]

I have PV Jak2+ and it was diagnosed without BMB - in fact I've told my Consultant I never want one, [if] it is performed with local anaesthetic as I am local anaesthetic resistant... I had a lumbar puncture nearly 10 years ago and it was the most horrific experience ever and could feel everything, even after the maximum amount of anaesthetic was used - and if I need dental work, I go without and use self-hypnosis and make sure my Dentist is very patient.

Good luck with your diagnosis.

[Lifam]

I am so surprised many of you DONOT have BMB, which is the only proper way for diagnosis. Mine was done by a haematologist in a hospital under local anaesthetic and didn't have any pain.

[grgracey in reply to Lifam]

Nice!

[hunter5582]

It depends on which diagnostic protocol your doc is using WHO vs British Hematologic Society. One calls for it. The other does not. So the answer is technically no. I was diagnosed with ET over 30 years ago. The MPN progressed to PV about 7 years ago. Every doc I have seen has said that I do not need a BMB. In the absence of evidence of progression to MF (in their view) there is no need.

Several docs have informed me that BMBs are sometimes performed improperly and that the results may or may not be reliable based on who does the procedure. If you have the procedure done, be sure to check the background of the doc doing the procedure as well as the facility in which it is being done. Some are definitely better than others. You will likely hear from people who have had the BMB ad range of experiences from "no big deal" to "horrible." I can't help but to think that this has a lot to do with the skill of the doc doing the procedure.

The really short answer to whether you need a BMB is that it is up to you. Do YOU believe that the procedure is worth doing. It is your body - it is your choice.

[Melanie66]

Hello 👋.. I have et and asked if it could be confirmed by blood test alone ....as I was afraid of a bmb.... I was told the only true confirmation is a bmb ....and believe that this is definite .... please go for it .... you will know for sure what you are dealing with and so will your drs ... Nurses ... . it really did not hurt ....and was over so quickly ....

Lainie x

[grgracey in reply to Melanie66]

I agree

[Petsch]

Never had one one hospital said I don’t need another wanted one. The other is big on running test. More money in their pocket

[grgracey]

Like me before diagnose for ET but scared of the bone marrow biopsy..but I pushed through it and its done now waiting for the result

[mhos61]

I have never had a bmb.

I was found to have raised platelets in a random blood test in late 2015. I was diagnosed in May 2016 with ET based on raised platelets and being positive for the Jak2 mutation, many of us seem to have been diagnosed in this manner.

Significantly, 2016 was the year that the WHO changed their criteria of having a bmb from a ‘minor criteria’ to a ‘major criteria’ for a diagnosis of ET. This was to differentiate between cases of ET and early stage PMF, as both can present with similar symptoms. I didn’t know about these ‘changes’ until much later in my diagnosis. However, it doesn’t bother me too much. If I note changes in symptoms, or, blood results, then I would probably ask for one.

[Mardigras]

Hello,

I have had a BNB, but my hematologist told me that it is now possible to detect ET from a blood test.

Hope this helps.

M

[Melanie66 in reply to Mardigras]

Hello 👋.. I was told the the blood test for et had detected et in me ... but could only be confirmed through bmb ..... it sounds (once again ) conflicting information ....

Lainie x

[mbr8076]

I was diagnosed February 2018 without a BMB. However, blood work showed ET with a mutation of JAK2. My hematologist stared it was not necessary because the JAK2 came back positive.

[Cja1956]

I was referred by my gp in 2008 to a hematologist due to high platelets found during a routine blood test. My hematologist did the bmb in his office and I was diagnosed with ET Jak2 positive. I’m not sure if they had the technology back

then to diagnosis me only through a blood test.

In September, I last year, I switched to an mpn specialist because I felt i had progressed due to anemia and worsening fatigue, brain fog, etc. but my original hematologist couldn’t seem to figure out how to help me. My new hematologist did a bmb and extensive bloodwork and diagnosed me with PMF.

In my opinion, the thought of having one is scarier than the actual procedure and it gives your doctor much more detailed and precise information as pertains to your condition.

Good luck whatever you decide.

[Dbh1962 in reply to Cja1956]

I think from reading the posts on here that it seems if the jak 2 is present then the diagnosis is easier with just a blood test , I had the test for genetic mutation but none was present , maybe that’s why they say I need the bmb m I shall ask the question when I’m there next month , have to say this forum has been so helpful , and also a little comforting, hearing others experiences.

[Grendall]

I was only diagnosed with a blood test, told I do not need a BMB, 58 years old