JAK-2 results

[CelticCrow68]

 Finally got Stus JAK-2 results today . Positive for PV and ET . GP consultation was awful, getting information was like getting blood out of a stone. Also got an urgent referral to urology as PSA level is high again. GP was totally disinterested and bored. Asked for numbers from both blood test but in the end only got the ones from end of May 2022. Thankful that haematology / oncology appointment is Monday morning. Is any one else from UK , Norfolk and treated at NNUH?

[EPguy]

I'm from US so can't help on the local provider. We do see UK members often have trouble getting test results. most frustrating. Is there any option to get a different GP?

They gave you a dual Dx ET & PV? Did they explain why the mix? Jak2 status alone will not provide ET vs PV Dx. I also have ambiguous Dx, officially PV.

[hunter5582]

That sounds like a very sloppy definition of the results the doctor provided. You do not have both ET and PV. These are different MPNs. There is also a diagnosis of MPN Unclassified when the clinical picture is not clear. It helps to understand the terms being used and the using them properly. Here is the KISS explanation.

Thrombocytosis = too many platelets.

Erythrocytosis = too many red blood cells.

Leukocytosis = too many white blood cells.

Essential Thrombocythemia = thrombocytosis driven by one of the three driver mutations (JAK2, CALR, MPL) or more rarely a triple negative ET.

Polycythemia Vera = erythrocytosis driven by one of the JAK2 driver mutations (JAK2v617f, JAK2 Exon 12) in over 95% of PV cases. Very rarely driven by the CALR mutation. Rarely a triple negative PV. NOTE: PV can also present with thrombocytosis and/or leukocytosis in addition to the erythrocytosis.

It is not surprising that getting information out of the GP was like getting blood out of a stone. Stones do not have blood and GPs usually do not have much information about MPNs. MPNs are rare disorders. Most doctors know little to nothing about them. I often have to explain what PV is to my doctors and how the diagnosis can present with such a wide range of symptoms.

It is quite odd that patients have such difficulty accessing their labs. Normally the doctor has them on the computer while you are seeing the doc. All it takes is hitting the print button. I have direct access to all of my labs as well. I just log into my patient portals and look up my labs, reports, and visit summaries. Many portals allow me a historic view when I can see all of my labs in a chart so I can see trends over time. This is so easy for a care system to set up with electronic health records I find it hard to understand why it is not a universal practice.

Hopefully you have been referred to a MPN Specialist. Many hematologists have little experience with MPNs due to their rarity. Optimal MPN care requires input from a hematologist with MPN-specific expertise. just in case, here is a list.

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Here are a few resources you may find helpful as you begin this journey.

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All the best.

[CelticCrow68 in reply to hunter5582]

I've just posted the one set of results we've got should have been two

[CelticCrow68 in reply to hunter5582]

positive for JAK2v617f

[CelticCrow68 in reply to hunter5582]

Thanks Hunter, not sure why but those links aren't showing

[hunter5582 in reply to CelticCrow68]

That is weird. Lets try again.

mpnvoice.org.uk/

mpninfo.org/

mpnadvocacy.com/

powerfulpatients.org/help-b...

[CelticCrow68 in reply to hunter5582]

Thank you

[EPguy]

I just saw the CBC results you posted. These look like PV, the important ones are high (HCT very high). PLT is only slightly high and daily variations could put it in range. ET normally has high PLT as an obvious standout. He is not far from the formal 2016 WHO definition of PV. Consistent HCT of 55.5 would put him there with no need for a marrow test. And the after shower itch points that way.

But it seems there is more info, did you get a marrow test? This could be a reason for the ambiguous Dx of both ET,PV. I am also right there, with an ambiguous Dx.

It's possible your Dr means positive for either ET or PV. Jak2 occurs in both, so that would allow for either. There are other mutations that show only in ET that all but preclude PV. But the blood results absent a marrow test still point to PV.

[CelticCrow68]

Thanks. Will know more later this morning, will update when we get back .

[MCW22]

I've been under the care of the Haematology department at the nnuh since my PV diagnosis in 2017. Mostly the care I've received has been OK but no face to face appointment for over 2 years now. My telephone appointments are now down to 3 monthly which I take as a sign that I am stable, although white cell count is always high 20s. Hospital post me the bloods form which I take to my gp about a week before the telephone appointment. At the phone appointment the consultant writes the prescription for my next lot of ruxolitinib which is then delivered to my home. There are regularly a few hiccups, like consultant calling over 2 hours after the stated time, forgetting to prescribe the medication or not prescribing enough to last until the next appointment. These sort of things happened even before covid when I attended the department in person. However I consider myself very lucky to have been put on ruxolitinib and that unlike those in the USA I don't have to pay for it. Carol