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Diagnosed with polycythemia, type and underlying cause unknown, frustrated

Posted , 4 users are following.

BobbyO
BobbyO

Male, 79, U.S., always been active, diagnosed with polycythemia last March, but underlying cause was unknown.  HCT - 53, Hemog - 18.4, EPO in normal range,

Symptoms included weakness/fatigue, shortness of breath, constant headackes,

light headed, no pain, chronic itching.  My physical activity has been shut down considerably.  Doctor suspected sleep apnea, but that was negative.  Also passed the heart and lung tests with flying colors.  I knew the "go to procedure" was phlebotomy so I requested this twice in April.  Experienced some relief, HCT came down to 48.6, but 

symptoms began to get worse.  July HCT 53.2, Hemog - 18.2, and I'm very weak.  I also

requested the JAK2 mutation test which was negative.  I'm going to see a new doctor soon, and maybe I need further testing.  My cadiologist says that my heart is not contributing to this condition.  I expect to be with my wife and enjoy our family for a while yet.  I'm an retired cop, and I don't like unsolved mysteries.  Maybe there is someone out there who has experienced this "unknown".  Thanks for listening.   

 

0 likes, 7 replies

7 Replies

  • peter98873
    peter98873 BobbyO

    Posted

    Hi BobbyO,

    You seem to have all the classic symptoms of PV but you will need to see a Haematologist to achieve a positive diagnosis of PV before any treatment will be commenced.  It will take a little time to complete but I am sure you will be equal to this.  PV is not curable yet but there are some positive treatments available to control the symptoms you are suffering.  Your cardiologist is correct when he advises you that your heart is not involved in PV.  You have already undergone the JAK2 mutation test with a negative result, which surely is good news in the long run.  This disorder is generally accepted as being caused by a defect in the JAK2 gene but there may be other variations which are not necessarily accepted at this time.  With the proper medication and other treatments available you can still live an active and full life.  Nevertheless you need to maintain a sensible diet, don't become dehyhdrated and try to get some exercise.  The condition is not known as hereditary and not transferred to others.  The genetic defect is considered present at birth but maybe acquired from another source in later life.  I was diagnosed with PV almost 20 years ago now and only then did I realise that some odd symptoms I was suffering prior to this were the forerunner to the eventual PV diagnosis.  This is a progressive disease and needs careful monitoring.  It is also one of similar diseases referred to under the general group of MPN's.  I think you might do well to visit the Related Information section at the bottom right of this forum under the Polycythemia Vera heading where you will discoiver much to assist you in dealing with this disorder.  I live in UK and I know that things can be a bit different in US but there are several of your compatriots who use this forum that will always set you right if needed.    My best wishes.

    Peter.

    • BobbyO
      BobbyO peter98873

      Posted

      Thanks for your information and incite into this issue.  I have an appointment with a  hematologist next

      Friday.  Interestingly, you mentioned proper diet as I have an appointment with a well respected

      nutritionist on the 23rd.  I've read that there is another test (JAK2, exon 12) for those 95% who were

      JAK2 mutation negative in the first place.  About 3 weeks ago I received a 3rd phlebotomy, which

      was somewhat messed up.  4 needle attempts, poking and twisting, etc., and only 75% of the minimum

      blood requirement was achieved.  Right now I getting sporadic headaches and light headed almost

      all the time....not good, I guess.

      BTW, over the years we've been to England on 3 different occasions, a pleasure every time.  

      BobbyO

    • peter98873
      peter98873 BobbyO

      Posted

      Hi BobbyO,

      Thanks for your reply.  I can understand your feelings over the phlebotomy sessions you underwent.  It does seem as if your blood may be thicker than normal if it is becoming difficult extract.  This is not unusual with PV and normally would be dealt with by taking a small dose of aspirin daily.  Something you could ask your doctor about maybe.  I am sure some or most of the symptoms you are getting can be suitably dealt with once the treatment has been arranged by the haematologist.  Good to hear that you enjoyed your visits to UK.  Trust you enjoyed yourselves.   Best wishes.

      Peter.

  • christine02490
    christine02490 BobbyO

    Posted

    Hi

    I understand your frustration. Was just diagnosed 3 days ago. I have a lot of questions and thrre seems to be so much involved. The treatment my specialist has worked out for me is:

    -an oral chemotherapy drug -Hydroxyurea 500mg. daily

    - 1 baby aspirin daily

    - bloodwork and Dr. visit every 2 months

    I am so sorry the phlebotomy did not help

    Stay positive and hang in there

    Chris

    • BobbyO
      BobbyO christine02490

      Posted

      Chris:

      I appreciate your reply.  Sounds good that your are on a regular schedule...something I have been

      lacking.  I've had to request the 3 phlebotomies and JAK2 test or they probably wouldn't have happened.

      My doctor was convinced that I had a sleep apnea issue, however, when that test turned up negative,

      he suggested I revisit the cardiologist.   I looking forward to meeting with a new hematologist on Friday.

      Presenly sporadic headaches and light headed most of every day.  

      I wish you the very best with your health care.

      BobbyO

  • kevin81762
    kevin81762 BobbyO

    Posted

    Hi Bobby... I realize your post is from awhile back. I read through your post (responses) as well as your results, and although I am not a doctor, the fact that your are jak2 v617f negative is good news. Up 96%-98% of people with PV are jak2 v617f positive. That your EPO is in the normal range is also good news. According to some experts, vertually all who harbor the jak2 exon 12 mutation—which is quite rare—have subnormal EPO levels. As a result, it has been suggested that a normal EPO level in the absence of the jak2 v617f mutation does not really warrent testing for the jak2 exon 12 mutation. However, persistent clinical signs/symptoms, should not deter you from getting to the bottom of your condition; if one exists. I am sort of going through the same thing myself. 
    • BobbyO
      BobbyO kevin81762

      Posted

      This is still a mystery for me.   I did have the exon 12 test (neg), and bone marrow biopsy (neg).  EPO

      is in the high normal range.  Heart and lungs ok, sleep apnea negative.  After 3 recent phlebotomy's,

      HCT is 44.1 and HGN  15.5.  But my fatigue becomes extreme even with little exertion, and hangs on

      for a while.  With that in mind, my doctor is ordering a thyroid panel.  I had one done in February with

      a different doctor, but it was low normal, but I don't think it was a full work up.  Maybe I have more than

      one thing going on here.  My present classification is idiopathic erythrocytosis    too many red cells with

      no known cause.  I know there are some isolated cases when the cause is never determined.

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