Confusion over polycythemia causes

[Elcee253]

Hi everyone

I have recently been seeing a haematologist due to high haemoglobin, haemocrit and red blood counts. I went to the doctor last summer because I was very tired, achey struggling to concentrate etc and he flagged that my blood counts were very high and have been since the first blood tests I have recorded when I was 16 (now 25).

I've had the jak2 test and it was normal. My epo levels are also normal (despite having a third kidney) and my spleen and liver looked fine. My haematologist originally diagnosed polycythemia due to years of persistently high red blood counts but now is a bit put off that they can't find the cause.

I had my first venesection this week which really has helped my symptoms even though they were unable to get the full amount out because the blood kept clotting.

I'm just feeling a bit lost with it all at the moment and any thoughts would be very welcome

Thank you

[Paul123456]

I assume your dx is still PV but JAK2-ve? Or are you saying he has ruled out PV? I can’t remember exact figure but think 10-15% of PV patients are JAK2 -ve.

Has he tested you for CALR and MPL mutations?

Or mentioned having a bone marrow biopsy?

How high is your HCT and RBC?

Best wishes Paul

[Elcee253 in reply to Paul123456]

Hi Paul

Thank you for your reply. My haematologist hasn't said it's PV just polycythemia with a currently unknown cause.

Thank you for this information, I hadn't heard of the other 2 mutations but will ask about these in my next appointment. Bone marrow biopsy was brought up in my last appointment but no decision was made as I was feeling a little overwhelmed and wanted to understand what the benefit of doing it would be

My levels fluctuate a bit. I am female so have been advised that 150 for hb and rbc of 4.8 is the upper part of the normal range and my latest blood test was 160 hb and 5.6 rbc. I have had higher levels previously but also some that are lower

Elcee

[Aime]

Hi, I’m like you, PV jak 2 negative. I was told that another gene mutation was the likely cause but they weren’t going to spend nhs money doing the tests because treatment would be the same anyway.

I understand as long as our blood counts are monitored and venesections or tablets given, then our life span is quite normal. It is very confusing at the start but don’t worry you will feel through time that you are getting some control over your PV and it’s not controlling you.

Keep in touch as there are lots of lovely people on this forum who really do understand what you are going through and it is closely monitored by Maz and her team. Maz can also allocate you a buddy if you feel this would help. Visit the MPN Voice website where you will find a lot of trustworthy information.

Kindest regards Aime xx😺😺

[Elcee253 in reply to Aime]

Thank you so much for your reply Aime. I will take a look at this website

[idi75]

My understanding is that Absolute Polycythaemia produces too many red blood cells. There are two main types - Primary and Secondary.

Polycythaemia Vera is Primary, a myeloprliferative neoplasm (MPN), usually caused by the JAK2 gene mutation but CALR and MPL tests are often checked too.

Secondary Polycythaemia produces too many red blood cells as the result of a few different underlying conditions. The underlying condition needs to be identified and treated if possible. Venesection can control the level of red blood cells until the cause identified.

I have had Polycythaemia - unidentified cause and JAK2, CALR and MLR negative, for over 4 years, my red blood cell level is controlled by venesection, now about twice a year. I don’t seem to have any of the unpleasant symptoms suffered by MPN sufferers and so far there has been no detrimental progression.

I have been told it is unlikely that I have an MPN and am just monitored with a full blood count every 4 months.

As far as I’m concerned ‘watch and wait’ with blood tests and an occasional venesection is no big deal.

I hope venesections have the desired effect for you and you soon feel well even if there is no cause identified.

[Elcee253 in reply to idi75]

Hi

Thank you for this reply and information. I think my profile is quite similar, though I will look into the other mutations

My haematologist has said it may just be bad luck and that given that the reference ranges are based on a normal distribution that I may just be one of those who falls at the extreme end.

So far the venesction has made a big difference and I am glad you are able to control yours

[Ebot]

The BMB might be a good move as it would give a really clear and definitive view of what is going on (or not going on) in terms of your red blood cell production etc. Certainly it is a useful diagnostic tool especially when the diagnosis is uncertain. It also provides a useful bench mark when tracking the progression of disease.

Don’t worry about the procedure. It’s pretty straightforward. It can be uncomfortable at the time but really, it’s no major drama.

[jane13]

probably worth trying to find out if your haem can confirm primary or secondary PV. Cause, treatment and prognosis are very different (see idi75 post above). Not sure there is any point doing BMB if u r lucky enough to have secondary PV.