my 24 yo son has a case that does is not easily diagnosed ( as I understand maybe many fall into this category??) He had a DVST 2 years ago and through all the bloodwork and testing that was done he came back with 0.4% JAK2. His CBC is all within normal range although HCT and HGB on higher end of normal. He did a bone marrow biopsy and it showed no JAK2. Which this is confusing to me why it would show low %in blood but not in bone marrow. He saw an MPN specialist in Ca.( who does not believe he has an MPN) bc that’s his hometown but he went to college in TX and got a job and lives in Dallas. His local hematologist has never had a case of an MPN but bc of where he lives this is who he sees and takes direction from. Local hematologist has him doing phlebotomies which we are ok with but he also wants him to get a second bone marrow biopsy and has tried to have him start on hydroxyurea both of which we have declined. I obviously trust the specialist more. My question is how does it work to try to have the specialist give direction to the local hematologist? Is this a common thing in the medical world and where they both do not agree on a diagnosis wouldn’t his be an issue. Has anyone come across this? 🙏Thank you in advance
Advice on an MPN specialist consult with local h... - MPN Voice
Advice on an MPN specialist consult with local hematologist
Wow. That is a strange one. I do not know why anyone would advise to start on hydrea without a full diagnosis. I had 2 BMB and they found out I was Calr not Jak 2 . I think your son needs a proper medical assessment bless him. I know you said you only have one local haemotogist but is there any way of trying to reach out to any other medical teams around you ? I really hope someone else is more help thank I am. I really want to hear that your son has the care and answers you both need x
Thank you so much for your reply. The local hematologist does think they have a full diagnosis but I do not. I actually did just look up 2 MPN specialists in the Dallas area. Sometimes I feel like getting so many opinions can be confusing but it sounds like with these MPNs that may be necessary. God bless you to for taking time to reply. ❤️
it’s is very possible to have positive Jak2 but no MPN. Jak2 test from marrow is more accurate than blood allegedly.. It’s is concerning your doc wants to put your son on Hydroxy at his age, most experts would 100% not advise that. You must keep looking for an expert you feel comfortable with. I know it’s a bit far but there are MPN experts at MDA Houston, even if it’s just to see them for proper diagnosis and plan of action, they can often communicate with your local Haem to keep them on track. You could then see the expert yearly or as required, I used to do that with MDA and my local Haem was in UK. There may be other good experts nearer to where you live that others on here may be able to suggest. If possible don’t be scared of travel to find the right expert, it is of course important to get the correct diagnosis and treatment plan.
Thank you so much for your reply! I agree that you must feel confident in your care team. We have asked both the local hematologist and the MPN specialist if they could connect but as of yet this has not happened. I’m not sure why and I just wanted to find out if this was common to do and how to go about making it happen. Sounds like many on here have been successful in making this happen. We may need to look for other doctors. It’s always such a process and long wait to make the switch but will be worth it to find team we feel confident with. Thank you again and best of luck to you
Kim
It’s is a process to switch and start with a new doc, last year I switched US hospital and expert, the process seemed to take forever and lots of useless admin depts, it took months BUT once I got to the hospital the staff were sharp and the doc fantastic, it was finally very worth the grind to get there
If its at all feasible, worth trip to Houston. It's got an excellent reputation. After that phone appointments and bloods done locally. Do hope your son settles eventually on care he has confidence in
I will agree with all so far that HU is not an appropriate consideration at this time given his age and diagnostic status. Were he to need cytoreduction, one of the interferons would be more appropriate.
It sounds like the local hematologist is treating for PV. Note that there are a small number of people with PV who do not have a measurable canonical JAK2 mutation. The diagnosis can still be made if the bone marrow morphology supports it along with the other criteria (HCT>49% + low EPO). If the other criteria were not present, then the diagnosis is not PV.
Given a history of a DVT and equivocal JAK2 testing, some degree of caution is sensible. Keeping HCT<45% seems reasonable. Therapeutic phlebotomies would be the best way to achieve this for now. It is worth noting that the long-term phlebotomy-induced iron deficiency can also have adverse effects. He can reconsider options if any of these occur.
You son would be well advised to make his care plan with a MPN Specialist. This can be documented with a letter or report provided to a local provider who can help execute the plan. This shared-care arrangement can work well provided the local hematologist does not let his ego get in the way. Competent ethical doctors are always willing to collaborate with a more knowledgeable colleague. Any doctor that would not collaborate should be replaced.
It may well be that he will need to repeat a BMB at some point to check on his MPN status. That is a decision that should be made with a MPN Specialist, not a hematologist with no experience with MPNs.
Wishing you both all the best.
Thank you so much Hunter! My son’s EPO is 9.2 and his HCT has never been over 47. The ego issue was exactly what I’m worried about because I have asked him to connect with the MPN specialist that we did see but this has never happened. The crazy thing is that I think k about some patients who may just follow the doctors orders and in this case a young person who may not even have PV would be on hydroxyurea and ruining the chance of having a family in future from being on this. We are scheduled to see Dr Brady Stein bc of his MPN specialist status as well as his expertise in blood clots.
Thank you again and best of luck to you too!
Kim
I was recently diagnosed with PV w Jak2 mutation and am doing the phlebotomies to lower HCT and HGB, aspirin to reduce the thrombotic risk, and am on HU because I am high risk (63, male, previous stroke). So a very standard treatment plan and diagnosis for a high risk patient.
My hematologist was able to diagnose PV without the MPN specialist. She has only seen a few MPN patients herself but she did refer me to the NCCN Clinical Practice Guidelines for MPNs -nccn.org/professionals/phys... - which certainly indicates the likely treatment paths that regular hematologists will go down. Maybe a useful resource for you too even if you're not using personal AI to manage your own treatment path. There are two MPN specialists in my area - one of whom helped write those Clinical Guidelines - but they are also teachers and researchers as well as clinicians. So not really the sort of patient-focused doctor that I want as my primary hematologist.
Since I am in the US - and am on a restricted insurance plan - and MPN's are 'break the piggy bank open and spend everything unlimited' diseases - I suspect that someone is going to be the gatekeeper. The patient is not the one who really drives treatment. Nor are the specialists. Right now I'm ok with those standard clinical guidelines.
I intend to have both those hematologists cooperate as much as possible (my hematologist as secondary care, the MPN specialist as tertiary) rather than just chase second opinions myself. Using a personalized 'AI agent' to keep them focused on me and my condition and questions and objectives. Right now - I don't think even specialists have THE answer. And I myself don't even have the right questions - yet.
I’m sorry to hear your son and you are going through this. I’m in the UK, so a different system. When I was diagnosed I had a haematologist who knew nothing about MPNs and I felt very vulnerable. I sought a 2nd opinion and found a wonderfully supportive team. MPNs are complicated and your son really does need either a specialist or at the very least a doc that understands the illness. Once he has found that he (and you) will get the information you need…someone told me a long time ago that information is power…and in this case it really is! Take care, and let us know how you and your son do. Xx
You can't trust doctors. I was diagnosed in 2019 with MDS/MPN, although I find it hard to believe I have an MPN. The only meds I take are a little aspirin once a day.
Anyway, I had a sudden incident recently where I was taken into hospital and diagnosed with inflamed gall bladder, bile duct and pancreatitis. They put me on a drip and I was soon fine, but while I was there, a very young doctor came to me and said "I have looked up blood cancer and I think you should have more blood thinners"; the next day he came in with a huge syringe, and I said "No thanks" and the ward sister was totally on my side; how can a junior doctor make this kind of decision when my haematologist has been monitoring me for five years? I'm home now. They want to remove my gall bladder. My GP is totally with me on the decision to say Thank you but No thanks. I am 80 and have never had a problem before (or since) and I was never questioned about my diet or drinking habits! The patient knows their own body, and we can no longer take it for granted that Doctor knows Best!
MD Anderson is astonishingly good. I have received excellent care and they are fully prepared to liaise with local doctors. Hydrea is a curious choice for his age, I would think.
Thank you for your reply! Good to hear about MD Anderson! It’s definitely a curious choice and that’s why it’s hard to feel comfortable with him. Time to look at switching doctors
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