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JAK2 V617 mutation positive - keeping an eye out for PV

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twinklingsky
twinklingsky

Hi all,

From my 23andme gene analysis I have the JAK2 V617 mutation. I wrote to a Professor who specialises in MPNs and she confirmed I do have the risk mutation but that not everyone with this mutation goes on to develop a MPN. However I understand that this is a slow burning disease and I have been unwell for years and diagnosed with pernicious anaemia and ME.

I have been keeping an eye on my bloods. My HCT is 0.435 so not at the diagnostic 0.48 required with the mutation for a PV diagnosis. However I have developed joint pain, hypertension and redness over joints (all rheum blood tests normal bar a non diagnostic slightly raised RA antibody).  November last year I was quite ill with joint pain, swelling, redness and fatigue. I just checked my blood results which GP said were normal and I was low in ferritin. low MCHC and high RCC (only just high however.) Platelets were within range but high for me.

Sorry, long way round of asking if any of you diagnosed with PV or an MPN had intermittent abnormal bloods before reaching a point of diagnosis? I am unsure if I need to follow this up with the GP. The lab also tested nucleated red blood cells, I guess because of the raised RCC, and the ref range was normal below 0.2. I was right on 0.2 but I understand there should be no NRCC in the blood after infancy and it can point to a bone marrow issue.

If anyone has any advice or does not mind to share their own story of diagnosis I would be very grateful.

Thank you for reading.

0 likes, 4 replies

4 Replies

  • peter98873
    peter98873 twinklingsky

    Posted

    Polycythaemia is a very variable disease at the best of times and it is only after several visits to the Haematologist that a firm pattern will arise.  Joint pain can occur with this disorder but as you point out it is normally associated with rheumatics.  Gout and ulcers are two of the factors with PV which is a progressive disease which over time can progress to ET and MF.  With a treatment pattern designed to suit your specific blood tests these changes can be controlled.  It is quite possible to be showing a tendency towards PV before diagnosis simply by virtue of a slightly raised red blood cell count which may not arouse much interest at the time.  This occurred to me.   Normally, one is born with the defective cell.  Anaemia is a by-product of PV etc.and can arise at any time during treatment.  I assume you have already visited a Haematologist and spoken with Professor Harrison, a known expert at Guys Hospital respecting the JAK2 cell mutation that causes the progression to ET etc.  A great deal will depend on whether this mutation advances or remains under control whereby the disorder progresses more seriously.  An official Haematology test will decide whether you are affected by PV or by something else, as you describe.  The JAK2 cell mutation indicates PV.   Normally one is born with the defective JAK cell which is not inherited nor transmitted to others.  There will always be found one exception to most things.  With an early diagnosis and any treatment needed the disorder can be contained.  The only known cure is by stem-cell treatment, a major undertaking and not very often undertaken or recommended.  I was first diagnosed some 20 years ago.  Best wishes.

    Peter.

    • twinklingsky
      twinklingsky peter98873

      Posted

      Hi Peter,

      Thank you for your considered response. Much appreciated.

      I have not been seen or referred by or to a haematologist. My GP was not concerned by the abnormal results and the letter I copied re the mutation has merely been filed on my notes. I was prescribed iron tablets for the low ferritin (which has been persistent for many years) 2 a day for 3 months and then 1 a day ongoing. After seeing the November results I wondered if the iron replacement was a good idea and gave currently discontinued them. GP appointment this week was cancelled.

      I'm not sure if I am making a mountain out of a mole hill over these results as the most recent ones are normal. Hence my querying if anyone had erratic rcc before diagnosis. Does it go high and stay high or can it go back to normal again pre diagnosis. I know B12 is known to unmask PV and wondered if that was what had happened to me but with iron supplementation.

      I guess the question now is should I be concerned and asking for haematology referral from one set of slightly abnormal bloods considering the JAK2 mutation?

    • peter98873
      peter98873 twinklingsky

      Posted

      Hi Tinklingsky,

      Thanks for your response.   The item that attracts most attention in your earlier mail is the reference to your predisposition with the JAK2V617 cell mutation being positive.  In most circumstances this would indicate Polycythaemia Rubra Vera (PRV) a step up from PV.  This shows that the JAK cell is formed in two parts, one of which is normal and the other abnormal.  It is the latter that causes all the problems with PV.  It only takes a very small movement in the abnormal part of the cell to fall into the PRV category.  Your tests suggest that this has not happened as a JAK 2 mutation which is the information given to you by your doctor initially.  If it does progress further then the mutation will be detectable.

      PV is a very serious and rare disorder and quite frankly, many medics rarely if ever, are presented by a patient with it.  Once this does occur the patient is invariable referred on to the Haematologist who will conduct tests and provide a diagnosis.  So the doctor gathers little information about PV and the expert is the Haematologist who will obviously see several patients and supervise the treatments thereafter.

      From this you will gather that if your doctor thinks necessary he/she can refer you for tests.  This is the accepted course for most patients.  I do not consider you are over-concerned about wishing to get things sorted for PV and MPN's are serious complaints that always need professional attention.  As I said earlier, these complaints can be very variable and similarly, the symptoms.  Maybe you could have a word with your GP to clarify everything, or even have a word with the Haematologist if it settles your mind.  Some people have difficulties with the ferratin levels.  Take  care.

      Peter.

  • harrishill1
    harrishill1 twinklingsky

    Posted

    Hello twinklingsky. Being that you tested positive for the jak2 gene mutation, I would think your GP shd refer you to a hematologist so that he can keep track of your blood tests which shd be done monthly until he can see what treatment is necessary if any. I was tested monthly at first until the hematologist could see if the meds worked properly, etc. At any rate you shd definitely be seeing a hematologist. 

    ?Then, if he decides he doesn't need to see you every month, that is fine as long as you have a CBC every couple of months. harrishill

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