I’m seeking any guidance on Polycythaemia Vera (PV) and the application of WHO2016 criteria in its prognosis or lack thereof. My Dr believes I have it, although JAK2 & Exon 12 tests were negative, HGB in 18s, HCT>50s, RBC >5s, low normal EPO around 6-8, bone marrow biopsy “slightly hypercellular” and venesection is the current infrequent treatment with checks every 4-8 weeks.
I’m having a hard time persuading my critical illness insurance provider that I qualify (another paid out by the way on exactly the same tests and criteria). They dismissed the marrow as fine and said my EPO was within normal range.
From reading there are 5% of patients who don’t have JAK +ve results but exhibit other symptoms of PV for which WHO2016 would not pickup. A Dr’s view is low normal EPO range with high HCT (all other things being considered) is a diagnosis of PV. Secondary PV has been discounted with normal tests on O2, Testosterone etc.
Although viewed as early stage, it is still PV from my Dr's expert medical opinion as a Haematologist in this field.
The treatment obviously effects the test results so proving the condition is now more complicated. Whilst stopping treatment is unadvisable both from the insurer’s requirement not to endanger oneself and the Dr’s in preventing a thrombosis.
Anyone know someone/anything to assist to prove the case?
Thank you.
Written by
Tropicaldays
To view profiles and participate in discussions please or .
Hi, I am diagnosed about a year ago with PV Jak2 exon 12.
You might consider getting a 2nd opinion with a nationally known MPN specialist. I believe many will review records and then have some kind of zoom call so travel may not be required. Maybe their opinion will carry some weight with the insurance carrier. I presently work locally with a hematologist but also consult with an MPN specialist (does research, write papers on MPNs, consults with like colleagues etc). The arrangement has worked well for me. These are rare diseases and alot of research is going on.
I would definitely agree with gvibes regarding getting a second opinion for a MPN Expert. While more rare, you are correct in noting that about 5% of people with PV are negative for JAK2. A very small percentage are positive for CALR. The rest have PV, but are negative for the current know driver mutations. One thing to consider would be a comprehensive MPN Myeloid panel look at all three driver mutations as well as a number of non-driver mutations. Here is one example of that type of assessment.files.labcorp.com/labcorp-d...
I would definitely follow up with a MPN Specialist ASAP. Here is a list
Hi,You might consider looking at research related to Exon 12. I believe the Exon 12 link to p-vera originally came about because some people otherwise presenting with p-vera were negative for 617f. So some studies looked at the genetics of these people and found many different mutations in the Exon 12 area. So Exon 12 is (I think) a list of mutations that were based on the original study group but that you would think would evolve as the genetics evolves. I think there are more than 15 or 20 mutations.
You might consider looking for a second opinion with someone who has studied these people who do not have 617f or who have been diagnosed with "idiopathic erythrocytosis" .
The Exon 12 people have different disease attributes than 617f, including higher erthrocytosis but pretty normal whites and platelets, and distinctive bone marrow. They often present at younger age. Linda Scott wrote some papers about Exon 12. (JAK2 Exon 12 Mutations in Polycythemia Vera and Idiopathic Erythrocytosis
Linda M. Scott, Ph.D, NE Journal of Medicine 2007).
Hello I was diagnosed with PV a year ago. My Jak2 and Exon 12 were negative. EPO Normal. My numbers continued high until I had therapeutic phlebotomy done twice over 6 months with my regular hematologist. My doctor wanted me to start on HU but I held off for the 2nd opinion. I was on a waitlist for the MPN specialist. The MPN reviewed all my lab prior to seeing me and told me he was ordering two things: A sleep study ( many have sleep apnea which causes the numbers to be high) and a Heme Stamp genetic test. This is at a teaching hospital in the US, it may be called something else at other hospitals. My sleep study showed very minor apnea. My Heme Stamp was negative for all mutations. I believe they cover 164 mutations Due to the Heme Stamp, both doctors felt I did not need a BMB. My MPN said to watch and wait, I now see the regular hematologist and they are thinking this is "secondary PV" due to something else. The MPN specialist told me PV is rare especially with the jak2 and Exon 12 negative. I am currently getting CBC's every 6 weeks. Some are a bit higher, but most recent I actually was near normal range. I highly recommend seeing an MPN specialist.
Content on HealthUnlocked does not replace the relationship between you and doctors or other healthcare professionals nor the advice you receive from them.
Never delay seeking advice or dialling emergency services because of something that you have read on HealthUnlocked.
PV with Exon 12 Mutation & Besremi Treatment Experiences
2 years with polycythaemia vera
Newbie with Primary Polycythaemia
ET or PV with just a slight increase in red blood cells. Is that possible
Low saturation with PV and Jakavi 20
