Possible JAK2+, wondering what the next steps are?

[B3189]

Hi everyone. I'm a 32F, was recently referred to a hematologist due to my family history of blood clots, heart attacks, etc. As a part of testing my hem also ordered the JAK2 V617F PCR mutation test. She also said she'd call me back in if anything came up positive, and that she'd just call me if everything came back normal. Well, she called me in and the only test I haven't received results for is the JAK2 test. I know this healthcare system will continue to show abnormal tests as "pending" until my doctor releases them to me. So, I'm thinking it's probably a pretty good chance that I'm JAK2+.

I don't know if I have any symptoms. My blood work from this February was all within normal range. I do have a lot of fatigue that's gotten worse in the past 12-18 months. I also have started getting headaches in the past 6ish months. I randomly have bone pain. Not with incredible frequency, but common enough that I can easily remember that it happens sometimes.

I have anxiety that gets hard to deal with at times, and it's been in overdrive since I got the call, and I'm just wondering if anyone else has been JAK2+ without symptoms, or many? What has your experience been like? Do you have an MPN?

Also, what can I expect at my next doctor's appt? I imagine that she'll want to run more tests, but what would she likely be doing?

Also, I am lucky enough to have 3 MPN specialists in my area. If I am JAK2+, should I make an appointment to see one of them?

Thank you.

[cmc_ufl]

Hi there. Please know this forum is a great place for reliable information and caring support. I myself have been in the evaluation process for a MPN since January of this year. Like you, I am young (30 y/o M).

Having a JAK2 mutation is associated with MPNs and typically presents with elevated platelets and/or RBCs. You mentioned all your bloodwork from Feb was normal. Did you have any more recent bloodwork that showed high platelets and/or RBCs?

[B3189 in reply to cmc_ufl]

No, no recent blood work aside from the clotting and JAK2 test. I imagine that will likely be the minimum my hem does when I go back to see her next week?

[cmc_ufl in reply to B3189]

I would try to stay calm until you know exactly what is going on. You do not yet know if you have a JAK2 mutation. If there is one thing I've learned this year (while it is easier said than done), it is that worrying does not help and that the future is unknown until it is known.

In the event you do have a JAK2 mutation, they will likely do another CBC to look at blood counts, as well as a peripheral smear to look at their size, shape, etc. Depending how things look with your specific situation, they may want to do a bone marrow biopsy, but this is not always the case.

If you do not mind me asking, do you happen to know your exact platelet and RBC counts from Feb? Sometimes different institutions use different reference ranges to define "normal"

[B3189 in reply to cmc_ufl]

Sure!

RBC were 3.98x10^6, platelets were 300x10^3.

[Mostew]

I have JAK2 pos. before being diagnosed 2 years again had white lights in vision . Thought it was something caused by strip lighting

Also easily agitated .

It’s good you are aware of the symptoms you have . Whether or not it’s JAK 2 + , headaches, bone pain and fatigue need to be addressed.

What’s your diet like like . ?

It would be good to ensure it’s anti inflammatory , eaten when calm and you have time to enjoy.

Food is often overlooked my medics .

Not suggesting it’s a ‘cure’.

Also are Dr s looking at mineral vitamin levels?

Yes you are lucky . MPN specialist would be very helpful

Do hope you get to bottom of it problem .

Keep in touch. This is a great forum with some knowledgeable folk x

[B3189 in reply to Mostew]

Thanks for the reply!

I'm a bariatric patient, so my diet is higher protein, lower carb. I cook and I make food from scratch 4/5 times. Sometimes I eat out or have something processed, but it's not daily. I try to incorporate a decent amount of fresh vegetables in my diet.

Because of being a bariatric patient, I do get extensive blood tests done each year to check my vitamin and mineral levels. I do have a few slight deficiencies discovered earlier this year (iron, B12, and D3, which could be cause for the fatigue), but I've been supplementing with vitamins.

[Halohungerford in reply to B3189]

I am also post bariatric surgery and was diagnosed one year ago with ET. I did not have problems with with my ferritin level prior to my ET but am now struggling with oral iron as it causes such GI symptoms. I would suggest watching your closely now since your diagnosis.

[Jynx93]

I am ET Jak2, not sure that Jak2 makes that much difference. I’m doing really well on interferon and aspirin. After 9 weeks on it all blood work normal

[hunter5582]

Hello and welcome to the forum. It is fortunate that you are receiving a thorough assessment to see what your status is. Waiting to get an answer to your status can be quite unnerving. Been there and done that too. Hopefully you will have your answer shortly.

While you wait, a few factoids. JAK2v617f is the most common of the MPN driver mutations. There is also a JAK2 Exon 12 variant. The other two driver mutations are CALR and MPL. It is possible to have a JAK2 mutation and to be asymptomatic. On the flip side, some people do have MPNs and are negative for all three driver mutations.

The JAK2 mutation is a gain-of-function mutation. It causes hemopoietic stem cells to self-phosphorylate - the on-switch is always on. This dysregulates the JAK-STAT pathway, one of the body's kinase system. One of the symptoms can be the overproduction of blood cells, erythrocytes (RBCs), thrombocytes (platelets) and leukocytes (WBCs). Some people experience overproduction of one blood cell type, others two, a few see all three increased. Dysregulation of the JAK-STAT pathway also causes the overproduction of inflammatory cytokines, resulting on many of the secondary symptoms people with MPNs experience.

Fatigue is the most common of all MPN constitutional symptoms. Headaches and bone pain are also seen with MPNs. All of these occur for other reasons that have nothing to do with MPNs.

At this point you will have to wait for an answer. It is a good sign that all of your blood cells are within normal limits, By definition a MPN involves the overproduction of at least one type of blood cell, If you do test positive, then you should arrange to see a MPN Specialist.

Know that if you do test positive, then you will have a long time to sort out what it will mean for you, I was diagnosed with ET about 30 years ago. It progressed to PV about 8 years ago. (I am JAK2+). At age 66 I am still alive and kicking and living a good life.

All the best you and do let us know how thigs turn out.

[Mostew in reply to hunter5582]

Hunter, lovely to hear you saying living a good life

I thought headaches , clamped like sensation is a by product of MPN ?

[hunter5582 in reply to Mostew]

Headaches can come from a MPN. They can also occur for other reasons. It an be hard to tell which is which.

[Mostew in reply to hunter5582]

Ps . Easy for me to decipher as never had headaches before .

[hunter5582 in reply to Mostew]

Sometimes 2 + 2 = 4. Timing is a big clue.

[Mostew in reply to hunter5582]

Didn’t know you are a mathematician as well as wise man !!!

Yes I agree…..

[EPguy]

As Hunter said, your Dr should also test for CALR and MPL, which are the other mutations that can be seen in ET type MPN. But your normal platelets reduce the odds of having ET. My platelets started rising many years before my Dx of ET.

[Mostew]

T

Hunter . Misread . Thought I saiid headaches weren’t caused by …. Did wonder …..