Age 37. Hb over 17 for 8 years, steadily increasing, before starting bloodletting, it was 19.6. EVF 55%, EPO 2.9. Uncertain JAK2 V617F, which according to The hospitals guidelines mean between 0.17-0.34% allele burden. As I interpret it, this means that the mutations have been found. There was also an investigation for sleep apnea without findings, and CT of the abdomen and pelvis without findings to exlplain secondary causes.
Symptoms:
- Blurred vision
- Itching after a hot shower/hot bath
- Acid reflux/ulcers
- Red skin
- High blood pressure
- Gout
- Night sweats
- Tingling in the legs
- Fatigue
Findings from bone marrow biopsy
«Here, the bone marrow shows somewhat varying cellularity. Erythropoiesis is somewhat expanded with some areas showing slight left-shift and partly confluent nests. The bone marrow shows a cellularity of 40-50%. There is a slight increase in reticulin fibers, only focal loose networks of fibers. In staining for CD71, there is a dominant erythropoiesis, while Lysozyme is positive indicating relatively mildly reduced myelopoiesis. The ratio approaches 1:1 in some areas of the bone marrow. CD61 is positive in scattered and mainly single megakaryocytes, varying in size. A very slight increase in the number of CD34 positive cells, clearly <5%. CD117 shows scattered positive cells, some weakly positive, consistent with erythroid precursors, some strongly positive, consistent with mast cells. No aggregates. Staining for CD20 shows a very slight increase in B-cells, some more CD3 positive T-cells. No dense infiltrates. Staining for Kappa and Lambda light chains shows a slight increase in plasma cells with a typical bitypic distribution.»
The hematologist, even before fully understanding the case, mentioned not believing it was PV, while the oncologist, who has been following the case, indicated that she thinks it is PV. I find it puzzling how these conflicting opinions can exist, especially when someone who is not an MPN specialist can confidently say it is not PV. Now They want to end it without further follow-up. And I dont know what to do?
Written by
Lababba
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Given the profile you describe, I would not just end it without follow-up. Your situation needs review by a MPN Specialist, What you describe could be a triple-negative PV or possibly something else causing the erythrocytosis. Not sure where you live, but getting to a MPN Specialist should be a priority regardless. It is not surprising that you are getting different opinions given what you describe. Getting to a true MPn expert doc is the best way to get an answer,
It depends on the level of sensitivity of the test being used. With a 1% level of sensitivity, a JAK2v617f finding of 0.17-0.34% would be an uncertain finding. I expect many would treat it as the same a not detected.
The deeper explanation of the gene analysis process and results would ideally come from a MPN Specialist. It requires understanding of noncanonical JAK2 mutations, the emerging understanding of other mutations (e.g., TET2), and more.
You have ample reason to think that you may in fact have an atypical case of PV; however, you need MPN expert input to find out what is going on. I am afraid all we can do is make suggestions from a layperson's perspective.
Agree with Ainslie. Better to have an MPN specialist review your case and help you arrive at a diagnosis. Push for a visit with an MPN specialist. It's your health and that's more important than anyone's ego!
in our country we dont have MPN specialists. But i have taken it furter with My insurance and they Are looking for alternatives. But what is worrying me is that they sat that to have PV My Hemoglobin has to be much higer then 19,7 and that EPO has to be almost 0, and jak2 has to be much higher. But all research I read says otherwise.
«The serum erythropoietin level can differentiate between primary and secondary erythrocytosis. In a cohort study of 125 patients, a low erythropoietin level ( 15.1 mU/mL) was specific (98%) but had poor sensitivity (47%) for the diagnosis of secondary erythrocytosis.20»
«We therefore conclude that a large proportion of MPN patients suffer severe thromboembolic (sciencedirect.com/topics/me... prior to diagnosis. If MPN were diagnosed earlier, a large proportion of these events might be prevented. An MPN should always be suspected and ruled out in patients (sciencedirect.com/topics/me...
with unexplained elevated hematocrit, leukocyte and/or platelet counts. «
«In this study, within the low allelic burden group, normal looking megakaryocytes were more frequently found, compared with no atypia, their number was more frequently not increased, and they did not form clusters. These findings indicate that in the portion of low positive JAK2V617F cases, the bone marrow morphology will be normal. This might be either be because the patient’s bone marrow biopsy was taken at the early stage of disease or the patient had a mild form of disease with only minor histological features that were insufficient to confirm MPN. Considering that bone marrow biopsy is an aggressive diagnostic procedure, in the low JAK2 V617F mutation burden patients, the more appropriate approach for the patient diagnostic workup would be to order a complete blood count (CBC), LDH, and abdominal ultrasound, and after 12 months to re-test the JAK2 V617F mutation status. Therefore, the management of low positive JAK2 V617F patients needs to be individualized based on their age, other comorbidities, having risk factors for thrombosis, etc. In this study, within the low-level mutation burden group (<3% of JAK2V617F)»
«However, even individuals with a JAK2 V617F mutation burden below 2% should receive medical attention as in time, many of them will develop a myeloproliferative neoplasm indicating the presence of a latent form of Ph-MPN [26]. Therefore, a careful follow up of every patient with a low positive JAK2 V617F mutation allele burden is mandatory, especially if bone marrow histology does not confirm MPN diagnosis.»
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Just found out I have pv
Diagnosis update - PV - in limbo 
now my local Heme/onc says I have ET not PV and it matters how they treat me. 
Choosing medication for PV/early MF 
