Hi everyone. This is the first time I post here but your chats have been so helpful for me over the past few months.
I’m 44 years old and got diagnosed with ET CARL mutation in September last year. It started off with a lot of bruising and fatigue (all drs originally said it was due to stress!) Blood tests showed that my platelets were at 645 and then genetic testing revealed the CALR mutation. This was followed by a BM to determine whether it was ET or MF however there was no fibrosis found. One of my concerns was that the bone marrow sample was ‘sub optimal’ according to the report as it was very difficult to extract the sample (it took the dr 5 tries under local anesthetic. He said my hip bone was too hard for some reason I don’t know). I was put on aspirin given my age and blood tests every 2 months.
Since then, the fatigue has been getting worse. Headaches, bruising as well. I started getting bone pain in my right hip and periodically arms and legs. I’m out of breath often but this could be attributed to my mild asthma. I’m not sure.
My platelet levels have been consistently increasing. From 645 in June to 829 in Feb. My Dr seems to think this is a stable platelet count but I’m not convinced. I’m worried about progression and though my Dr is a hematologist with MPN experience I’m concerned (I can’t find any MPN specialists here). Worth mentioning is that my Eosinophils are slightly elevated and LDH borderline.
Can anyone shed some light on this please? Or am I just worrying too much?
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Wow. This truly sounds like me a few years ago. I have E.T Calr also. My left hip was the troublesome one for me. I also had the same fatigue problems and some breathlessness. I also started out on 6 monthly appointments and on baby asprin. The fatigue and bone pain got too bad for me and I really struggled physically and mentally to understand what was happening with me when it seemed like I was OK to be just seen every 6 months. I would have pains in my wrists. I would wake up sweating. I would catch a lot of bugs. I was working in a school and I was bad every couple of weeks. I had worked there 17 years and nothing like the constant infection after infection I was experiencing. I was constantly tired and very forgetful. I now know what brain fog is. I decided that in myself I wasn't right. I went back to my hospital and just explained that I couldn't cope with tiredness and bug after bug. They looked into my platelets again they were fluctuating a lot every time I was ill really and they asked me if I would like to start treatment. I said I was desperate for anything to help with the fatigue and bone pain. I understand that they are side effects from the E.T but I also got told that when my platelets come down the fatigue may change. I have been on hydrea since September and it has been a heck of a ride. I am though happy I started it as my platelets are coming down. I am however still picking up bugs. I still have horrible bone pain and sometimes a little suprise ailment comes along as well. I did ask if because I was like this it was progressing to M.F I was sent for an ultrasound as my stomach was also sore and a bit bloated. My spleen was just a little bigger but nothing to suggest any progression. Eee I am sorry this has went on a bit it just really sounds like me 2 years ago and I can identify a bit with you. When you are next at your consultant or if you can even drop them an email and explain your concerns. Everyone has a right to be listened to. Everyone should be offered a great level of care and I really hope you get some answers. Please get in touch with me when you find out anything else. Take care Lesley x
It would be hard for us to say whether you are progressing. Answering the question would depend on your definition of progression. it would require a repeat BMB to determine if there has been [progression in fibrosis. However, there are other ways top think about progression. Increasing size on the spleen would be one form of progression. More general but very important would be progression in symptom burden. Increasing bone pain and fatigue would reasonably be considered to be progression of symptom burden.
A steady increase in platelets that was sustained over time would also be a sign of progression; however, platelets levels cany vary widely from time to time. PLT can vary by as much as 100 in a single day based on what is going on in the body. My PLTs used to vary by 200K between different times checking the numbers. They were constantly up and down.
While not all agree, an increase in the CALR Variant Allele Frequency (VAF) can also be considered a sign of progression. You would need to know your baseline CALR VAF to determine this. Not all hematologists believe in tracking this. My MPN care team does use this as one of the biomarkers we track.
A steady increase on eosinophilia would be potential sign of progression. Likewise, rising LDH could reflect rising levels of inflammation, which is a potential MPN issue.
Not sure where you live, but just in case it is helpful here is a list of MPN expert doctors. mpnforum.com/tsr-the-list/ It would be worth getting a second opinion if possible.
There is something called pre-fibrotic MF. My doctor thinks I may have been misdiagnosed with ET by my original hematologist. I think it’s time for a second opinion.
You are absolutely correct about pre-fibrotic PMF. It is a fairly "new" MPN subset with the first diagnostic criteria published in 2016 and then expanded upon in 2022. Given its relative newness and even more rare occurrence, it is often misdiagnosed as primary ET. I was originally diagnosed with ET at the end of 2021 just as the new expanded criteria for pre-fibrotic PMF were being published. At the time I questioned my MPN specialist about my BMB findings as on the report itself the technicians questioned as to whether we were dealing with ET or MF...at the time my MPN specialist - who has been amazing - diagnosed me as ET...as I became more knowledgeable about the disease and as more information and studies became available, I have asked him to re-visit the initial diagnosis.
It would appear that I have all the major criteria and most of the minor which distinguish between ET and pre-fibrotic PMF. Here is a very good summary of the key differences - sciencedirect.com/science/a...
In summary the key differences are:
"Among the most helpful features in distinguishing prefibrotic PMF from ET are: (1) age-adjusted BM cellularity (typically normal in ET and increased in prefibrotic PMF); (2) myeloid-to-erythroid ratio (normal in ET and increased in prefibrotic PMF); (3) presence of dense megakaryocyte clusters (rare or absent in ET, frequent in prefibrotic PMF); (4) megakaryocyte morphology (increased large and hyperlobulated forms in ET, pleomorphic and variable in size with bulbous and hypolobated froms, often with nuclear hyperchomasia in prefibrotic PMF); and (5) mild reticulin fibrosis (typically absent in ET, frequent in prefibrotic PMF)."
Of course if you Google the difference, it will also tell you that the overall prognosis of pf-PMF is worse than ET (survival, progression, etc.) - but for me the key question for my MPN specialist was would we have done anything different if we had first diagnosed pf-PMF...the only answers were possibly start on interferons a little earlier (only lost a few months here as I was intolerant to HU anyway) and would have done the full gene panel to check for additional potential mutations from the get go (my MPN specialist believes this should be the standard of care anyway - the more info the better)...
Anyway, this is a new and developing subset in a rare set of diseases....good luck!
Thank you for that very complete answer. My story is I was diagnosed in 2008 with ET. My numbers started changing around 2016 but my Hematologist really didn’t see the big picture and just changed my medication from hydroxy to Jakafi. The next couple of years I kept telling him I think I morphed into MF because my hemoglobin was dropping and my platelets were getting higher and my energy level was getting worse. I told him I wanted another biopsy, but he wouldn’t do it. So I finally found an Mpn specialist and brought her my records from him from when I first got diagnosed and the last six months of my current records in 2019. That’s when she diagnosed me with MF intermediate one. But she thinks I may have been misdiagnosed from the very beginning. I’m now at intermediate 3/high risk and I’m going into transplant probably in May.
We share the Cal-r mutation and we are a similar age. Can I throw something else into the mix which may or may not be helpful to you. Perimenopause. Fatigue & bone pain can be signs of this. In recent months I have had cycles of bone & joint pain which isn’t consistent but peaks then subsides only to reoccur around a month later. Menopause research & awareness has come to the forefront in recent years and what has become apparent is that there are a whole host of symptoms associated with it. It would not be at all unusual for a 44 year old to be seeing signs of this. Unfortunately we are women and it’s complicated. I, myself wonder if niggling health complaints are related to ET, the meds, menopause or just normal every day little bugs or viruses.
Personally I have chosen not to have a BMB. My reason is that my treatment plan wouldn’t really change if there was signs of progression (I’m on Pegasys) but if my symptoms or blood work significantly changed I would be open to one. I just don’t need to worry about MF just yet. I also am assured that it is not that common that ET transforms into MF. When I have been to in person forums this is a fact that is made clear, it is definitely not inevitable.
It’s important that you check out what is going on with you but also not to assume the worst. The Cal-r mutation often accompanies higher platelet counts mine were 1200 and rising when I was diagnosed hence the start of medication immediately.
You are recently diagnosed and I remember how shocking it was for me at that point. I was 42 with a small baby but since then I’ve come to terms with things, I forget about ET most days and life is pretty normal. This forum is a fantastic source of information and support but it’s definitely worth noting people don’t tend to post when life is boring and normal. You will see a snapshot of people with MPN’s who are seeking a bit of help or support.
I hope I haven’t come across as playing down your symptoms and concerns I just don’t want you to jump to the worse case scenario.
Sending you love and hope that you manage to get some answers soon.
I wish I could help you but all I can say is I am going through a similar thing at the moment. I am 58, a teacher in a tough school. I have ET, JAK 2 mutation , fatigue, headache, silent migraine,bruise easily bone pain and inflammation. My platelets have gone from 600 to 1008 in the last two years when this was picked up and I am feeling rotten at the moment - interesting to note that I always feel worse at this time of year with the cold. I had a BMB last year, a good sample which showed MF at 1 - so not diagnosed. I am generally healthy, spleen is fine.
I am noticing that as my count goes up and with the time of year I do feel worse and more drained even when I look after myself. I have always been healthy but do admit to working stupidly hard in stressful circumstances because the job demanded it for over 25 years and that dealing with that has really messed my head up in that I feel a fraud in taking time off.
I struggle with the fact this illness is so personal and that some GP’s do not seem to understand. Also that my Haematologist only seems interested in the blood results ( I go every four months). I honestly feel that I am not taken seriously because it isn’t life threatening, and that’s fine but I know there are some days when I am so drained, my head hurts and my bones that I just feel awful and I need someone to acknowledge that and tell me it is to be expected.
Wether the disease is progressing and the burden is increasing is definitely the question but as Hunter points out, even if this is not happening then the symptoms are getting worse and I think it is this that is making the difference. I would also say that surely our bodies must be getting tired, there were low level signs in my blood tests at least a decade ago so maybe this burden over time has something to do with it all?
All I can do is to wish you well, say you are not alone in this.
H. You don’t say where in Scotland you are, but I’d suggest a second opinion: I’ve been treated in Edinburgh at the Western General - Dr Koutsavlis - good guy and very thorough. Excellent cns support, too. In Glasgow there’s also a very good MPN team- name of the lead consultant there escapes me. Take care.
Could the hip bone pain be due to the biopsy? I had a BMB in 2015 and it took @ six years of increasing agony before an orthopaedic surgeon pinned it down to two 6mm lesions on my pelvic bone from the biopsy needles. One had slipped on to my sacroiliac joint. This isn’t uncommon according to my doctors — BMBs can often cause intense chronic pain, and MPN patients should be aware of this as we’re required to have them. I’m clear that I’ll never have another under any circumstances.
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ET jak2 to PV
Recently diagnosed with ET (CALR+)
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