Modbury123

[Modbury123]

Hello this is the first time I have submitted a request maybe you can help me solve this please .

I have ET plus JAK2 I take 500gm Hydroxycarbamide plus Aspirin.

On my GP Patient Access under conditions Essential Thrombocythemia is shown I mentioned to the GP should it not also say + JAK2 .He came back with a message from his receptionist saying no JAK 2 is just a blood test to diagnose ET .I am not sure that is totally correct I understand it is a blood test to identify ET but isn’t JAK2 an added condition .

It is not a big issue but would appreciate it if anyone can clarify this .I feel my GP is very pleasant but I think is not very experienced in MPN I am the only patient in the practice with this condition.

As I mentioned this is my first time to make contact but I do read all the emails daily and find the MPN Voice very helpful and reassuring.

Best wishes

Modbury123

[Trueblue8]

Hi, have a read of this then share it with your GP - such a lack of understanding out there about MPNs!

mympnteam.com/resources/wha...

Hope this helps

Ian

[Otterfield]

JAK2 positive describes a mutation often found with ET, not a separate disease. You could discuss this with your haematologist. Best wishes.

[hunter5582]

The diagnostic criteria for ET can include the presence of the JAK2 mutation, either JKK2v617f or JAK2 Exon 12. Note that there are two other driver mutations that can cause ET, CALR and MPL.

Here are the WHO diagnostic criteria for ET

The World Health Organization (WHO) diagnostic criteria for essential thrombocythemia include 4 major and 1 minor criteria. Diagnosis requires meeting all 4 major criteria or the first 3 major criteria and the minor criterion.

The major criteria are as follows:

1. Platelet count ≥450 × 109/L

2. Bone marrow biopsy showing megakaryocyte lineage with increased numbers of enlarged, mature megakaryocytes with no significant increase in neutrophil granulopoiesis or erythropoiesis and, rarely, minor reticulin fibers.

3. Not meeting WHO criteria for CML, polycythemia vera (PV), primary myelofibrosis, myelodysplastic syndromes, or other myeloid neoplasms.

4. Presence of JAK2, CALR or MPL mutation

The minor criterion is the presence of a clonal marker or absence of evidence of reactive thrombocytosis (eg, infection, inflammation, iron deficiency anemia).

The KISS explanation is that the JAK2 mutation causes the "on-switch" for the blood cell progenitors to always be "on". This causes these cells to always be producing more blood cells than needed. This same mutation can also cause Polycythemia Vera and Myelofibrosis. In addition to making too many blood cells, the JAK2 mutation causes the overproduction of inflammatory cytokines. This is thought to cause many of the secondary symptoms we can experience with MPNs.

The MPN Voice website is an excellent place to learn more about MPNs. mpnvoice.org.uk/ There are some excellent videos to help learn more about ET and MPNs at this site. Suggest starting with MPN Molecular Biology. mpninfo.org/conferences/202...

MPNs are rare disorders. Most doctors know little about them. Note that many regular hematologists also have little experience with MPNs. It is very important to consult with a MPN Specialist about your care for ET. Here is a list of MPN expert doctors. mpnforum.com/list-hem./

Wishing you all the best moving forward.

[AndyT]

I don’t think this is anything to worry about as having JAK2 or another genetic mutation is a sub-classification of ET, not a separate condition.

While it’s important for your GP to be aware of your ET, any treatment decisions, including those that take account of your genetic mutation, should be made by your haematologist not your GP.

[Ebot]

Hi there.

Hunter, as ever, has given a really thorough explanation of JAK2.

I simply wanted to add that noting that you are JAK2 positive is important because it helps describe the characteristics of your ET and to build a picture of what ET looks like in, and for, you.

MPNs affect us all so individually. The more information we have - and record - the more detailed our personal MPN ‘narrative’ becomes. This helps the haematologists to understand and manage our disease going forward.

There is a huge amount of research going on into the way JAK2 and other mutations relate to the development and progression of MPNs. (And prognosis for patients.) And importantly how this informs what drugs might be used to not just to manage the condition but halt progression. And maybe one day find a cure.

Take a look at the recordings from the recent MPN Voice Patient day (they may not be available yet). They will provide an excellent insight. (And maybe your GP should take a look too!)

[RazB]

Modbury123, Hi, it’s certainly disconcerting when a GP has so little knowledge of our condition - I experienced this when I was diagnosed in 2004 and since with a couple of other GPs. But, as the guys above have said, your consultant will know far more and will know his/her stuff to be able to support you properly. I was quite annoyed at first because I was frightened at the lack of knowledge about this new thing in my life, but then I realised that GPs can’t know about every single different condition in detail and MPNs are still fairly rare (thank goodness). Find a really good, supportive, on-the-ball consultant and go armed with questions every time you have an appointment! X

[Mostew]

No more to add , to other responses , except to say always good to ask questions. Glad u have a pleasant gp . It helps

[Modbury123]

Thank you all so much for your replies it is reassuring to know you are all out there I will take your advice Hunter as a start log onto MPN Molecular Biology conference .Best wishes to you all

Modbury 123

[Ozziepig]

Hi Modbury 123

I’m Ozzuepig. Diagnosed nearly 4 years ago with ET Jak2+.

Since then I gave. Even on daily aspirin and between 500/1000mg of hydroxycarbamide as well.

Hunter as always gives knowledgeable and good information. I too had a useless GP who knows nothing about MPN’s and made no attempt to support me. I changed my GP!

I have a very good doctor at the hospital and speak to him every 3 months after I have a blood test and we discuss my results.

This group is fantastic for advice and support so never be afraid of asking for help.

I wish you well on your ET journey.

[Exeter21]

yes my GP had never heard of my ET Jak2 it was Haemotology tests that picked it up at my request as suspected something not right. I gave up with GP & don’t even get my blood tests done there now . I contacted MPN at Guys when I started with my hydroxy as my body rejected it. Now on Peg Interferon. However Jak2 was diagnosed from the outset but not from bloods taken by my GP surgery. Better to always consult MPN with our disease. The last conference in London on MPNs was excellent. I do not know anyone with it but lots at the conference . 👍 Julia

[katiewalsh]

Hi. You already received good answers. I just want to welcome you to this group. It’s wonderfully supportive. Remember that no question is stupid so never hesitate to ask questions. Katie