Newly Diagnosed Polycythemia (possibly familial)Very confused!

Hi my name is Paul and I'm a little nervous and confused. I'm looking to reach out to people in the polycythemia and MPN community for some info, advice, and or support! Here is my story: I was diagnosed this year with panic disorder and have been just getting that under better control in recent months with medication and seeing a therapist and psychiatrist. One of my last really bad panic attacks made me go to the hospital because I was so frightened and couldn't calm down and had chest pain. When they took my blood my hematocrit was 57. They referred me to a hematologist. I dug and found my blood work going back for the last 10 years. Apparently my hematocrit and hemoglobin has been fluctuating up and down for at least that long. I showed the hematologist and he said this is very odd you fluctuate year to year like hematocrit 54 one year, then 48, then 54, then 52 the next, then 55, then 51. He said " in my professional opinion you don't have polycythemia. There is nothing to account for the fluctuation, you've never given blood. usually over the years it goes up consistently. Also you have never had any symptoms" and he palpated my stomach and said it was fine. He said this type of disorder progresses fast and you show no signs or symptoms.

Anyway he sent me for a mass study and It came back that my red cells are producing too much and a slightly low plasma. They said it was consistent with polycythemia but they were sure what was causing it. They said I tested negative for the jak 2 gene and they tested a bunch of secondary causes and they were negative.

So since then I've gone back and had my first two phlebotomies. At my first appointment my hematocrit shot up to 60. They took my blood and the next two days I felt weak and sick and awful.

Then I just recently went for my second phlebotomy a week later and they tested my hematocrit and it was 51 down from 59. They took more blood and I felt dizzy and my blood pressure dropped from 122/82 to 80/50. The doctor came out and they elevated my legs and gave me three bags of fluid. He then said to me we might be able to be more lenient with these phlebotomies and Ill set your target at 50. I showed him my dads blood work and that I found and apparently his hematocrit fluctuated a little over the years too but not as high as mine. His was like 48, 49, 52, 48 - from year to year. Also found one blood work where my mother was at 52 once. So the doctor said he thinks its familial now and that there is no cancer risk just need to keep my hematocrit controlled to prevent thrombosis. He sent me out and said to come back in two weeks. And he sent me out with referrals to get an ultrasound of my spleen and kidneys. After my second phlebotomy I felt dizzy and tired again but not sick this time. They may be taking too much blood!

So now I'm nervous because I read that its rare and only a few familial cases have even been reported. I'm scared and hope my kidneys don't have any tumors and that my spleen is ok. Does this sound normal to anyone ? or has anyone had a similar experience? When they first talked to me they weren't sure I had it and then they were confused for a while and said maybe I have a genetic defect yet to be discovered. Now they are saying familial. I am also worried about cancer risks, how this will affect my life span, and how likely it is I'll have a thrombotic event. It says you don't live long undiagnosed but apparently I've had this a long time and no one diagnosed me until now. Also is there anything I can do to reduce my risks? exercise? sleep? hydration? I read a study showing grapefruit lowered hematocrit naturally. It just seems like everyone is confused and I may be getting a second opinion soon as well as seeing an alternative doctor. Anyway I'm confused and scared and if anyone has any advice I would appreciate it! Thank You!!!

1 Reply

  • Paul, so sorry to be late to reply, I have been out of town. Your story is a lot like most of us where we either are not diagnosed or improperly diagnosed for years. My recommendation is that you see a specialist in MPNs. You will have to travel to the Mayo Clinic in Rochester or Scottsdale. Also, New York has some specialists in MPNs. The MPN Forum magazine has a list of patient referred doctors that are specialist in this field.

    I found it interesting about your panic attacks. I starting having panic attacks out of the blue and it was also when my blood was out of whack and undiagnosed. I wonder if anyone else out there has had something like this. Once my blood counts got normalized the panic attacks stopped....interesting.

    There are new algorithms (directions) for accurate treatment for our MPNs, I will post those in a new post. You need to have a bone marrow biopsy done, have you had this done yet?

    There are some alternative treatments that on of our members has researched, I will ask her to post those for you.

    I am hoping you are taking an 81mg baby aspirin as a precaution....are you?

    There are other genetic markers that the specialists now check for and you should be checked for those as well.

    I do not have a doctor in this area to recommend at this point.

    Let me know what other questions you might have at this time. Are you in the Tri-state area?