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Hi everyone. Struggling to get some answers for what I suspect, is PV

Posted , 6 users are following.

kevin81762
kevin81762

Hi everyone...

New here, but I have read a lot of posts on this forum over the last year. Last year, (in the Fall), I began to experience some odd itching (generalized) on my body, hands and arms when I would go for a run. I would also itch on my legs (shin area mostly) and my hands and arms, for no apparent reason, they'd just itch as soon I would wake up on and off throughout the day. I also, although not very much, would itch after contact with water, albeit, very little at all, and If I did, it would be more after exposure to cooler water, such as at the lake. About a week later (end of September), I was in our local emerge as the itch was driving me mad, some blood work was done, and the emerge Dr said my HB was slightly elevated (17.8) but he wasn't concernded, he just said to redue my blood work in a month. In the mean time, I was referred to a dermatologist for the itch, and was able to get in relatively quickly considering I live in Canada. The dermatologist attributed my itch to dermagraphism, which he tested me for by taking a stick and drawing on my back. But I question this, as I do not get the welts you typically see from dermagraphism, just what appear to be red histimine lines from where I scratch. Sometimes when I itch, i can just run my finger across the itchy part and a red line appears. I had some more blood work done, but through an outside agency, and now my HB was even higher, 18.3 and my Hct was 51.0. My GP refrred me a Internest Dr, who did a ton of blood work and ordered the Jak 2 V617f test, which from what I gather is the predominant mutation in PV, as it presents in about 96% of all cases. The test was done using PSR analysis, which is the far more sensitive. The week it took was agonizing to say the least, but the test came back negative, which I was extremely happy about. I should mention that 17 days prior to this test, i had donated blood on the advice of my mom, but when I inquried if this would have skewed the test, my answer was no, not at all. If I had the mutation, it would have shown up. Although I was happy, the itch was still occuring and when I saw my Internest for a follow up, she said that she no longer suspected I had PV. I asked her about the other Jak 2 (exon 12) test, and she said, her words, "when are you gonna stop looking?" I explained that, although the jak 2 v617f test accounts for the vast majority, there is still a few that test for the other mutation. She pretty much said no, she wasn't going to order it, and that I should do some more blood work in three months, which I did the end of march this year, and my counts were 17.4 for Hb and 49.4 for Hct, which I was happy about... But as of today, I still itch and as far as I am concerned, I am no further ahead in solving this issue. I worry I have PV as I can not find anything else that would correlate to the itch and having a slightly elevated HB and Hct.. That being said, my blood records going back to 2007 have always indicated a slightly higher side of normal in terms of HB and Hct, but never outside the upper limits, that is, until recently.. All my other counts have been normal. The only symptoms I have has been the itch, and on occasion, sinus type headaches... Interestingly, I have an Identical twin brother, who when asking him what his values were, said that his last CBC (done about year and a half ago) showed a HB of 17.3 and an Hct of 50.0...

I feel like like I am going insane, so much so that my GP and other family members are worried about my mental state... Recently, the itch has gotten worse and today, swimming in the lake, I itched a lot after getting out of the water, which, prompted me to finally post...! 

I will also note, neither my Internest Dr, nor my GP, think a hematolgist will see me if they refer me, they think my levels are not elevated enough... Go figure..! At my ropes end people... I am not convinced I don't have PV  .... and its next to impossible to get answers.. 

 

0 likes, 29 replies

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  • angela_o..o
    angela_o..o kevin81762

    Posted

    Hello,

    Can you think of anything unusual that happened to you last autumn? Did you contract a virus or anything?  Were there any reports of algal blooms in the lake water late last summer? How do you feel, apart from the itching and the sinus trouble? Do you feel lethargic or achy? Maybe it's not polycythaemia. Maybe you have something such as aquagenic pruritic

    • kevin81762
      kevin81762 angela_o..o

      Posted

      Hi Angela... I can't think of anything, other than Lime disease, which I believe I was tested for, but I am not 100% sure... I have had a ton of blood work done, looking at everything. No, not tired at at all, and no redness. I have been paying close attention to any symptoms or signs... I am at a loss, other than to say, this is not something (the itching) I have ever experienced before. I guess thats possible, but I don't always itch after being in the water, its sporatic at best. But I will say, I've certainly noticed it more as of late... Its weird, I can have a weeks worth of hot showers, then jump in the lake at the cottage, and itch like crazy when I get out, albeit, not for very long. Sometimes I will have a hot shower and itch mildly, then other times nothing.... Ugh.... I do itch in general though, that is, my skin itches (at a level I can tolerate) on and off throughout the day. So when I do shower and itch after, I don't know if its from the itching before having the shower or a result of....   

  • glenda2491
    glenda2491 kevin81762

    Posted

    Have you considered your detergent may be the itch cause?
    • kevin81762
      kevin81762 glenda2491

      Posted

      I am slated to see an allergist in September, but I am not holding out that this is going to be resolved.... I've thought it might be due to a histamine intolerance of some sort, but then there's the itch that, at times, will accompany exposure to water... So I don't know... 

  • julia15874
    julia15874 kevin81762

    Posted

    Hi it's a frustration for you, after reading things on here and other forums, in my opinion there must be some reason your bloods are not within a heathy range. I'm waiting for my JAK2 results and my haemotololist has told me if its negitive he needs to run more tests as there is a reason my bloods are high, so he wants to get to the bottom of things, I don't know how I would feel if they can't find any reason for it. On another forum I read one guy has primary PV but JAK2 negitive due to another gene I'll find out which one it was sometime today, or if you are on face book it's called polcythaemia UK, he has PV and his mother does too, his bloods have been high for years. It's scary to think they would leave you to suffer with high bloods when it can course you to have a stroke or heart attack, like someone on here said it's the oil that runs your engine. I really do hope you get some answers. Julia

    • kevin81762
      kevin81762 julia15874

      Posted

      I'd say so... Well, my GP has told me that its not uncommon to see your blood work values fall outside the limits, as they never stay the same and they fluxuate throughout the day. Values also vary between different regions or geographical locations. For some the upper limit is 18.0 for a male, and in others its 17.5 (that is the upper value where I live) and I have even seen them as low as 17.0 (I think in Austraila), so I don't know. I have blood work going back as far as 2007, and my counts have always been between 16.8 to 17.3, always... Last Fall, they were slightly elevated (stress maybe?) I don't know... But I also have an itch, generalized, that hasn't gone away from around the same time. My frustration centers around an Internist Dr who refused to investigate me further, now I have to wait and get a second opinion. All the research I have looked at says that the main Jak2 V617f mutation is the the most common one (at 96% to 97%) leaving a small, but worthy 2-3% chance its the jak2 exon 12. I will say the last time I had blood work done (end of March this year), my counts were within the limit. albeit, the upper limit of normal.In my original post, I mentioned that I have an identical twin brother and his values are upper norm as well, 17.3 Hb and 50.0 for Hct... But he's not itchng lol... 

       

    • julia15874
      julia15874 kevin81762

      Posted

      This is a long read but fills u in on other mutations that can cause your blood to rise, I don't know weather I would be satisfied if my JAK2 comes back negitive with my haemotololist leaving me with alleviated blood, mine was okay then a two years a ago it went above normal and since then with every blood test it has slowly got higher, I've had itching too and dizziness, anyway read the following it might be of interest to those who are JAK2 negitive :- Familial erythrocytosis can result from mutations in the EPOR, VHL, EGLN1, or EPAS1 gene. Researchers define four types of familial erythrocytosis, ECYT1 through ECYT4, based on which of these genes is altered.

      The EPOR gene provides instructions for making a protein known as the erythropoietin receptor, which is found on the surface of certain blood-forming cells in the bone marrow. Erythropoietin is a hormone that directs the production of new red blood cells. Erythropoietin fits into the receptor like a key into a lock, triggering signaling pathways that lead to the formation of red blood cells. Mutations in the EPOR gene cause the erythropoietin receptor to be turned on for an abnormally long time after attaching to erythropoietin. The overactive receptor signals the production of red blood cells even when they are not needed, which results in an excess of these cells in the bloodstream. When familial erythrocytosis is caused by mutations in the EPOR gene, it is known as ECYT1.

      The proteins produced from the VHL, EGLN1, and EPAS1 genes are also involved in red blood cell production; they each play a role in regulating erythropoietin. The protein produced from the EPAS1 gene is one component of a protein complex called hypoxia-inducible factor (HIF). When oxygen levels are lower than normal (hypoxia), HIF activates genes that help the body adapt, including the gene that provides instructions for making erythropoietin. Erythropoietin stimulates the production of more red blood cells to carry oxygen to organs and tissues. The proteins produced from the VHL and EGLN1 genes indirectly regulate erythropoietin by controlling the amount of available HIF. Mutations in any of these three genes can disrupt the regulation of red blood cell formation, leading to an overproduction of these cells. When familial erythrocytosis results from VHL gene mutations it is known as ECYT2; when the condition is caused by EGLN1 gene mutations it is called ECYT3; and when the condition results from EPAS1 gene mutations it is known as ECYT4.

      Researchers have also described non-familial (acquired) forms of erythrocytosis. Causes of acquired erythrocytosis include long-term exposure to high altitude, chronic lung or heart disease, episodes in which breathing slows or stops for short periods during sleep (sleep apnea), and certain types of tumors. Another form of acquired erythrocytosis, called polycythemia vera, results from somatic (non-inherited) mutations in other genes involved in red blood cell production. In some cases, the cause of erythrocytosis is unknown.

    • kevin81762
      kevin81762 julia15874

      Posted

      Thanks Julia, I'll look into these as well. And trust me, I am not satisfied with the Internist Dr I have been seeing, nor her diagnosis, or lack there of—the Dr, as far as I am concerned, shouldn't be practicing medicine.... 

    • jessie2150
      jessie2150 kevin81762

      Posted

      Hi kevin,

      I read this today, it may be very similar to what julia has written, if so sorry. Only I do think every bit of info is useful and might help understanding.  

      Laboratory Studies

      Testing for the JAK2 V617F mutation and an erythropoietin (EPO) level helps differentiate secondary polycythemia from polycythemia vera. Positive JAK2 V617F mutation status with a low EPO level confirms the diagnosis of polycythemia vera. IfJAK2 V617F mutation testing is negative but the EPO level is low, then testing for other mutations in exon 12 and 13 of JAK2 helps identify a small minority of patients with polycythemia vera. All the other patients with wild-type JAK2 and a normal or elevated EPO level have secondary polycythemia.

    • kevin81762
      kevin81762 jessie2150

      Posted

      Hey Jessie...

      Thanks for the info... You know whats crazy, the Internist Dr never even tested me for my EPO, a point I actually brought up. The Dr doesn't suspect I have it lol... and I remain unconvinced the Dr even knows what they're doing... I am in the process of getting a second opinion and see an allergist first week of Sept... I still itch, and that is a concern, but it is so varied and never predictable...

       

    • jessie2150
      jessie2150 kevin81762

      Posted

      You are welcome kevin. I try to gain as much information as I can before I see a doctor (polycythaemia is complicated though).

      No medical knowledge myself, but the EPO levels seem very relevant.

      best wishes  j x

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