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Gene tests?

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geoff-mpnfamily
geoff-mpnfamily

Hi everyone in the PV world, I have had Polycythaemia for over 6 years now, I am JAK2 (V617F) & (EXON12) negative and was wondering if anyone has ever been test for the EPOR (Erythropoietin Receptor) gene or even the VHL, & TET2 genes.?

0 likes, 10 replies

10 Replies

  • harrishill1
    harrishill1 geoff-mpnfamily

    Posted

    Hi geoff. I was tested for the jak2 genemutati, and found I do have it. Wasn't tested for those others. Don't understand why you weret ested for those? If you don't have the jak2 gene mutation, it must mean your PV is caused by environment  ?

    harrishill

  • Jesskidding
    Jesskidding geoff-mpnfamily

    Posted

    hi geoff, I'm new here today, from the US and have had Polycythemia for a couple years anyway, maybe longer.

    I have been tested for the JAK2 and was found negative however I don't know if it was the (V617F and EXON12) are those more than one test?

    Your question prompted my attention because my hemo/onc said my polycythemia was secondary from smoking (said likely and see you in a year) however my labs over the last couple months, including his have been suspicious so waiting till June 24 for a second opinion.  First opinion wasn't very reassuring, in addition to being very symptomatic of PV that even he said isn't caused by smoking IE: petechiae etc.

    At any rate, another distinguishing factor in my case that warrants futher investigation is that my EPO level is low.  Everywhere I have read shows that a smoker would likely have an elevated EPO serum level.  

    Have you had a regular Serum Erythropoietin test?  IDK about the Receptor and what that means as well as the other genes you mention. If you could educate me on those I would be appreciative.

    What are your treatments? Being JAK2 negative and w/low EPO as much as I would like to avoid it with other possible testing it looks like a definitive diagnosis, in my case, may be with a bone marrow biopsy.

    Cheers 

    Jess

    • geoff-mpnfamily
      geoff-mpnfamily Jesskidding

      Posted

      Hi Jess, sorry for the delay in response, JAK2 (V617F) & (EXON12) are two separate tests, the v617f takes approximately 4 weeks, and the exon12 takes approximately 8 weeks and is explicit to your erythrocytes (Red Cells) unlike the v617f as a mutation in this gene can affect red, whites and platelets.

      A low to very low EPO, is usually a sign of primary polycythaemia, however if you red cells are very high, your EPO will stop producing regardless. This is why when your bloods are thinned via Venesections (blood letting / phleb) the specialist should re-check your EPO If it is still low, then it's more likely to be a genetic defect that's causing your polycythaemia. A bone marrow biopsy will also confirm Hyperplasia (over production).

      Another test that should be performed is a 'Red Cell Mass' test, they take your height, and weight, calculate the expected red cell count you should have in your system and compare it to what you actually have. If it is 25% above the prediction then this again confirms primary polycythaemia.

      Your EPOR (erythropoietine receptor) can also be the cause for polycythaemia, this can be both primary, secondary and / or familial. The EPO sends a message to the EPOR to make more blood.

      TET2 can be the cause of Polycythaemia, Essential Thrombocythaemia and Myelofibrosis. Little is known about this gene.

      VHL is very rare in the western parts of the world, it is known as Chuvash Polycythaemia.

      I had my second EPO test, just a few weeks ago, as I'm now receiving a second opinion from a specialist in Cambridge, mine was low when I was first diagnosed, but they never checked it again. My treatment over the last 6 and half years has been regular Venesections, weekly, 2 weekly, then every 4, now I'm every 6 - 8 weeks. I can't stand the induced iron deficiency the side affects are blooming awful.

      I hope all that helps

      Geoff

    • Jesskidding
      Jesskidding geoff-mpnfamily

      Posted

      Thank you for taking the time, Geoff, it helps a lot and I appreciate it.  I have a negative JAK2 (V^17F) will ask at my second opinion appt. about true red cell mass.  My rbc/hgb/hct are not very high just high.  The hemo/onc diagnosed true erythrocytosis and then polycythemia (however his opinion is 'likely cause by smoking') however my oygen sat. is fine, no lung issues cough etc.  Recent onset of shortness of breath with exersion, however.

      I have read, multiple places, albeit online, that the EPO would likely be elevated in secondary polycythemia (ie: smokers) 

      It's been several years with wbc elevation but also can be caused by smoking as well as the osteoarthritis, endometriosis other inflammatory processes so as you can imagine that couple with the occassional thrombocytosis and very low ferritin and iron saturation symptoms are off the charts.

      I've had a consistent true erythrocitosis for two years both before and after iron infusions, (strong indicators iron ferritin/saturation anemia is coming back) and a hysterectomy (thought to be losing iron there) without resolution of the Restless Leg Syndrome... horrid.

       

      Some things that have happened the last few months, symptoms and lab wise, have prompted the ever present need for a true diagnosis. In addition have an elevated serum IgA immuniglobulin (monoclonal gammopathy?) found in addition to a WBC diffierential including increases in all cell lines including immature granulocytes.  

      I have not received any treatment for the polycythemia, which is concerning of course, especially since my rapid decline the past few months.  I see my primary care June 2, who agreed I have true polycythemia vera, however is uncomfortable treating without a hemotoligists definitive diagnosis. (don't see personally how venesection could hurt even if secondary to smoking I have too much blood) at any rate, your post will arm me with some questions for the hemo/onc second opinion on June 24

      Dreadfully waiting and sincerely,

      Jess

  • harrishill1
    harrishill1 geoff-mpnfamily

    Posted

    Hi geoff, you say you tested negative for the jak2 gene mutation. That means your PV was likely caused by environment. No one knows for sure. However, Although I was positive for the jak2 gene mutation, I believe your treatment is probably similar to mine. At first, the blood CBC, is tested once a month, to see how high it is. If your red cells and or white cells are too high, you wd have about a pint of blood removed. Then, after a few months of that, you may be given meds such as Hydroxyurea or a similar drug to prevent blood clots, and it also lowers the immune system a little. We shd always have our flu shots and also pneumonia shots cause a lowered immune system makes us susceptible. My Hydroxy works very well, and I have no side effects. It usually keeps my blood count in line.

    Hope this explanation helps you.

    Harrishill 

    • geoff-mpnfamily
      geoff-mpnfamily harrishill1

      Posted

      Hi Harris, it's not going to be the environment that causes the polycythaemia, my liver, kidneys and heart are fine no COPD (lung disease) and I've never worked with chemicals.

      I've been having Venesections for many many years now, first weekly, then a few months later, it was ever two weeks, etc... I'm now every 6 to 8 weeks.

    • Jesskidding
      Jesskidding harrishill1

      Posted

      Many cases of primary polycythemia vera (same as you) with negative Jak2 mutation.  Lots of different secondary poly. (smoking, high altitude, environment) causes. My understanding anyway. smile 
  • Jesskidding
    Jesskidding geoff-mpnfamily

    Posted

    Hi again geoff...

    Sorry to answer your question with a question, but could you tell me how you were diagnosed? Is your diagnosis polycythemia rubra vera? What diagnostic criteria did you meet for the if true PV, was it just the low EPO and true erythrocytosis?

    • Jesskidding
      Jesskidding

      Posted

      oops. you also say iron 'induced' deficiency.. has venesection caused that, ie. a side effect from treatment? I have had no treatment for my polycythemia, however have had iron deficient anemia for better than a year, then treated with iron infusion and still with out Polycythemia treatment  the ferritin and iron sats are dropping again..
    • geoff-mpnfamily
      geoff-mpnfamily Jesskidding

      Posted

      They infused you with iron!!! With low ferritin, low epo and raised haemoglobin and Haematocrit? Did they know at the time? That's awful if they did.

      Venesections do lower the ferritin levels, it's done to slow down the proliferation (growth) of your red cells.. based on your current blood health I personally say your primary, short of seeing your Bone marrow trephine and aspirate (BMB) - I'm no GP or Haematologist so I could be wrong.

      Finding the root cause of your iron deficiency is important, it's ever so easy to blame everything on PV, I do it to many times myself. The answer could be really simple like heavy cycles, to complex like a bleeding valve near the heart.

      Oh and P.S... Yes you are right about the EPO being high with secondary, unless you have a mutation in the VHL gene (Chuvash Polycythaemia) then ironically it's high, therefore difficult to diagnose. And as said above, if your HCT & HB goes above a certain point ( I can't remember how high for woman, sorry) your epo will turn off automatically. If it's still low to very low (mine was below 2.5) after some treatment to lower your HCT, then very likely primary polycythaemia.

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