So slight update after seeing a haematologist this week. I won’t repeat my story and bore everyone again but anyone interested see my previous post.
So basically the haematologist could not tell me why I got the 2 positive JAK2 results aswell as 2 negative. She wonders if because the test was so new back then it could be two false positives (I’m doubtful, once maybe, not twice?) or she said some people can carry tiny amounts of the mutation but it not actually be an MPN? Any truth in that?
She has taken blood to redo my JAK2 test (and I believe the exon test? And something else I couldn’t remember) and says if this comes back as negative I should be able to mostly put this to bed as 95% of people with PV have a positive JAK2. She believes as I had a positive, positive, negative, negative in that order it makes her believe its going to be negative, especially as I have currently normal range blood counts atm and have done for years. She will also be doing a blood film. She said she wouldn’t put me through a BMB again with normal counts.
I should find out the results in 6-8 weeks, if she makes me an appointment it means it’s positive, if it’s negative she’ll just write me a letter.
I have two issues that are bugging me:
1) I have an enlarged liver, my GP wanted me to ask about it at the meeting with the haematologist as it can regularly be a haematological issue. So I did and they said ‘absolutely nothing to do with us’. But then putting aside the other obvious haematological conditions that does involve an enlarged liver, if you go and search MPN symptoms and on the first site I clicked the very first symptom reads ‘Enlarged spleen (splenomegaly) or liver (hepatomegaly)’.
2) I found a case study that could pretty much explain my weird case. But I only found it after my appointment and I don’t know whether to try and send it to this haematologist and go what do you think? Or wait for the JAK2 result to come back before going look, or do I just leave it entirely and what will be will be in the future? She could not offer me 100% answer whatever happens as she simply didn’t know why I got those 2 positives or why my blood was raised back then and now isn’t. So in a way I feel like I’m as in the dark as I was before, if not more so but I’d be curious what she thought. Anyway the case study abstract is:
Spontaneous remission of polycythemia vera: clinical and cell culture characteristics
D H Cowan et al. Am J Hematol. 1994 May.
Abstract
A 20-year-old woman presented with polycythemia vera and was treated with phlebotomy alone for eleven years, following which all clinical manifestations of the disease disappeared. The clinical remission with normal physical findings and normal peripheral blood counts has persisted for a further 11 years. Erythroid colony culture results have paralleled the clinical state. Initial bone marrow cultures revealed spontaneous growth of erythroid burst-forming units (BFU-E). Subsequent cultures of peripheral blood cells throughout most of the period of spontaneous clinical remission have revealed little or no spontaneous growth of BFU-E. This suggests a suppression of the abnormal stem cell clone during the period of remission.
I had major surgery in 2005 (in the middle of being diagnosed with PV (2003-2004) then discharged (2005-2006). I lost a lot of blood, it was a 10 hour operation. My bloods went from above normal before the op to normal range after the op and they’ve stayed there since all be it at the top end (current RBC at 5.1). I then had the negative JAK2 test after the op and because of my blood count was discharged. I now know that in those days they didn’t know that patients with MPNs could have negative JAK2s so I wonder if they had whether that would of made a difference or not.
I know that with the JAK2 test, the mutation can be missed. Not all granulocytes and red cell precursors will possess the JAK2 mutations. The proportion of affected cells will vary from person to person and may change over time. If there is only a small number of cells that have the mutation in the blood sample tested, then it is possible that the mutation will not be detected. If my counts were low as it was very early (considering it’s supposed to be an adult/elder disease), then how easy it is to get a negative JAK2 and still have an MPN.
I honestly don’t know if I’m just trying to flog a dead horse at this rate but I feel like I’m going in circles with doctors at the moment. Each of them going ‘all your symptoms match up to a disease handily not connected to our department, you need to talk to..’ I’ve been told I’m a fascinating case by numerous doctors in my life and yet by this point I would like to be the most boring patient in the world but one with actual answers.
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Chaucer89
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It is correct that people can harbor the JAK2 mutation and not have a MPN. This is called Clonal Hematopoiesis of Indeterminate Potential (CHIP). CHIP is something that is under ongoing research. In addition, there is evidence that we can actually acquire the JAK2 mutation early in life, possibly en utero. It can take decades for the mutation to manifest as a MPN.
Sometimes cancers go into remission for no apparent reason. Perhaps that is what happened to you. How wonderful if true. it is also possible to have a noncanonical JAK2 mutation (mutation not v617f or exon 12). This could be missed and may be why there is that 2-3% of people with PV with no JAK2 mutation.
The hepatomegaly is something that needs to be explored. It seems possible that something else is going on that maybe could have cause secondary polycythemia. Perhaps something related to why you needed a major surgery??? Most curious.
I certainly agree about wanting to be The World's Most Boring patient! That is one of my goals too. I would LOVE to be boring!
Hi really interesting, am curious to see what your next result comes back as. Wouldn’t spontaneous remission be fab if that was the case! Hope you get to the bottom of the enlarged liver issue. Reminds me of when I told my Neurologist of my blood issues, he waved his hand said ‘that’s a GP problem’ 🙄 I am currently waiting JAK2 exon test outcome too. Good luck with it all.
Hi, i am currently under two consultants Haematology and Heaptology.
I find it odd that the haematologist said it was a GP question as it has been explained to myself that the reasons behind why I have a enlarged spleen and my liver - as both seem to have taken on other functions in relation to my blood production/management - the haematologist may not have the in-depth knowledge about the liver of a doctor in the hepatology department but the whole splenic/liver system is very much linked with the liver being able to take on other functions for the spleen.
I am under hepatology as I have a Portal Vein Thrombosis and Varices - in keeping with MPN’s which I have regular treatment and a number of CT’s to assess the blood flow to the liver.
It is fascinating how the body works - when they look at the scans they can see that my body has developed new vessels to transport the blood to the liver around the clot - it would be truly amazing if you have gone in to some sort of remission - the human body can be amazing in how it chooses to take on other functions in order to survive.
If you are having liver problems maybe there needs to be a referral to the hepatology department, doesn’t mean that they are not linked - but also allows someone with a more in-depth knowledge to maybe look into your liver enlargement and hopefully identify the cause.
Kinda in the same boat right now. Liver size of 14.66 cms from previous 13.3 cms. However my radiologist reports it as normal. My bilirubin is also close to 1 mg/dl. Also jak 2 negative and bmb showing no evidence of mpn
I was told by haematologist that enlarged liver would be unrelated to an MPN if anything came back abnormal, it’s enlarged spleen that would be relevant for them. Though there are other blood conditions that can cause an enlarged liver like autoimmune hepatitis which I’ve had ruled out.
Finding consistent levels on what counts as enlarged on the internet is virtually impossible I’m finding! I think I’ve seen somewhere say 15cm but some say a normal size is 9cm which doesn’t sound right and whether all that’s male and females regardless of size etc I don’t know. Im a very slim 5’4” female so not a lot of room for an enlarged liver! I’ve got gilberts syndrome already which counts for the high billirubin (my last result was 53 umol/L normal range 1-20) but that doesn’t cause enlarged liver, I’ve also got abnormal copper levels in blood but not enough to be classed as Wilson’s disease so whether that’s causing it (currently doing tests to recheck Wilson’s) or if one of my other conditions as I’m still being tested for an IBD and recently found I have gallstones and polphs so body is definitely working itself up to something!
I’d maybe ask doc to keep an eye on your liver if it seems to be growing, I do yearly full blood counts and liver counts to make sure nothing goes too hinky!
Thank you for the feedback. And yeah I'm extremely confused by size because some doctors report 14 above itself as enlarged. I don't know why my radiologist wrote normal.I'm 23 M and 5'5 height 68 kgs. I'm not even sure if it's something to be stressed about at this point because it's reported normal, I will go for a routine scan again in three months time. Is this your first scan ever? If yes then you can't really say enlarged to be honest, but then again most liver usg agree on below 15 or strictly below 14. Some do have big livers. If your liver said fatty steatosis then you don't even have to worry abt it btw.
I’ve had some sort of scan pretty much every year of my life for one reason or other! So I know it wasn’t enlarged back in 2021. Mine was tagged as moderate hepatomegaly on my last two scans last summer and last month so definitely classed medically as enlarged, can feel it too. But just no idea why it’s enlarged!
Mine is not showing any issues like fatty liver disease on scans, I don’t drink at all and I only weigh 43kg with a very healthy diet as I have stomach issues. As my hepatologist says it’s a mystery! Nothing too worrying at least, probably just something to monitor.
If your liver function bloods are coming back normal and scans clear of any signs of trouble except mild enlargement I’d say don’t worry too much but hopefully you can get some firm answers soon!
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