JAK2 Mutation - Effects and Questions

Posted by ettap @ettap, Mar 29, 2018

Have JAK2 mutation verified twice; one year apart and from different labs. As I understand, it may cause polycythemia vera, essential thrombocytosis, or leukemia. My hematologist has not provided any real info on this mutation so I've been researching via internet. I knew leukemia is cancer but was disappointed to find out today that the other 2 are blood cancers as well. I have been seeing a hematologist every 3 mos. about this since my 2nd blood clotting event in 09/2016. To date, all my blood factors have been in the normal range. Here are some of my questions: 1. Is it typical to verify this mutation well before it triggers one of these diseases? 2. I know early detection of cancer can be a real plus, but is there any research or experience that supports proactive steps that can be taken to deter the onset of any of these possibilities? 3. With polycythemia vera and essential thrombocytosis, is blood letting the primary treatment? If so, can the blood be donated? 4. Since none of my blood factors have ever been out of the normal range to date, no specific result of the JAK2 mutation has raised its ugly head. Is this normal? I'm not typically a worrier. In fact, I do really well with things like this once I know what I am dealing with. Information becomes my sword which allows me to take worry and nip it in the bud.

Interested in more discussions like this? Go to the Blood Cancers & Disorders Support Group.

jola13 | @jola13 | Jul 25, 2023

In reply to @loribmt "You’re still having these horrible headaches? Is this relatively new since you stopped taking the Diclofenac..." + (show)

Hi Lori Due to have blood’s tomorrow will ask. It’s only when I was told to cut out pain killers and started HU will talk to them.

sand103 | @sand103 | Jul 25, 2023

I was told with Jak 2 mutation … blood donation is a NO

sand103 | @sand103 | Jul 25, 2023

In reply to @1995victoria "The WHO has designated ET with Jak2 is a chronic cancer. And HU is considered chemo,..." + (show)

Same here! I had a stroke 2018. Full dose aspirin only thing since. Still elevated platelets so HU and 325 mg aspirin now

Lori, Volunteer Mentor | @loribmt | Jul 25, 2023

In reply to @jola13 "ET - prefibrotic myelofibrosis JAK2 - Chronic Myeloproliferative disease on 26th day HU 500mg per day..." + (show)

You’re still having these horrible headaches? Is this relatively new since you stopped taking the Diclofenac or was it when you started the HU? You mentioned before that you do have occasional migraines but nothing steady like these recurring headaches.

With all these new extreme pains you’re having in your bones, along with the headaches, this just feels as though there’s more going on that should be investigated.

I’m looking at your list of meds and wondering when’s the last time you had a med re-evaluation. With so many strong, pain pills, one of which contains codeine, another medication for gout, an anti-anxiety med (which can really mess with your serotonin level). You’ve just added HU to the blend, which incidentally, can increase the uric acid level which causes gout.
Not sure if this is related in any way to the Hydroxyurea but I’m wondering if you’re having an interaction with any of these drugs. Were you pretty ok up until the time you started with the HU?
Several members in the forum who had negative side effects from taking HU checked with their provider for advice to stop taking it for a few days or a week to see if it made a difference. It did make a difference and then their dosages were lowered. It would really be in your best interest to let your doctor know the issues you’re having.
Have you talked with your provider about you headaches and body pains? When’s the last time you had bloodwork run?

jola13 | @jola13 | Jul 25, 2023

ET - prefibrotic myelofibrosis JAK2 - Chronic Myeloproliferative disease on 26th day HU 500mg per day and 75mg Aspirin plus my usual meds.aluprinol, sertraline, Lyrica, etc
- Ive been having a week of bad Headaches - extreme tiredness - and the last couple of days extreme pain in my shoulders, hips and feet - not just joint pain but deep bone pain.
- Have been told to stop Diclofenac for pain on my last bloods visit - can only take Cocodamol I have all strengths - lowest doesn't work - and if I try the higher doses I am like a zombie. I have moments where in an instant I have to stop what Im doing and crawl into bed.

1995victoria | @1995victoria | Jul 24, 2023

In reply to @sregiani "Hi, welcome to the “scary” club. I’ve had ET for a few months now, but was..." + (show)

The WHO has designated ET with Jak2 is a chronic cancer. And HU is considered chemo, I notice my platelets rising over 3 years of wellness exams, and asked my primary, he sent me to hematologist, had many blood tests plus bone marrow biopsy to confirm diagnosis. Had second opinion with all lab results, including slides from BMB and concurred with diagnosis. I've been on HU for 3 years now with baby aspirin, rather take meds than have stroke or heart attack.

Lori, Volunteer Mentor | @loribmt | Jul 23, 2023

In reply to @mags17 "Many thanks your are really helpful for sharing this link. Just wondering if Rusfentide is a..." + (show)

I found a little more information for you about Rusfentide and from what I’m understanding, it’s not a form of chemo.
It’s a therapy that mimics hepcidin. Hepcidin is a hormone that regulates how your body uses iron. It controls how much iron is available for essential body functions, like making hemoglobin and red blood cells. It also limits the amount of available iron for your body to use so your cells don’t experience iron overload.
So for PV patients it’s meant to reduce or elimate the need for phelbotomies. Because this is way out of my area I’m only writing from information I’ve read in the several articles I posted in my earlier reply for you. I have no idea if this works as a stand-alone drug or used in conjunction with other treatments.

That was encouraging that you were off the HU and your numbers were stable for a few months and your side effects disappeared. I’m sorry they’re back again. But it did show at the time the HU worked for you. Hopefully you adapt and the side effects lessen over time. I can empathize, I know how some of our meds can take the wind out of our sails. But at least we’re here and not pushing daisies up from the underside. ☺️ Hugs…

lynnevb | @lynnevb | Jul 23, 2023

In reply to @mags17 "Many thanks your are really helpful for sharing this link. Just wondering if Rusfentide is a..." + (show)

I have been on Hydrea about 10 years. I had to really experiment to find out how to take it without too many side effects. This is what has worked for me so far. I take hydrea with lunch. i need to take it with a substantial meal that has at least a few carbs and I cannot lie down for at least 4 hours after taking. maybe this will will help but maybe not.

mags17 | @mags17 | Jul 23, 2023

In reply to @loribmt "Hi @mags17 Unfortunately there is a professional registration necessary to get into the Medscape…however, I found..." + (show)

Many thanks your are really helpful for sharing this link.
Just wondering if Rusfentide is a form of chemoteraphy🤔
So glad to have had reduction in Hydrea, although I feel exhausted at times & my hair is still falling out in strands at a time.
Just a bit of interesting info!! On 18th March this year, I had a bruised muscle on r/h side. I was prescribed a very strong painkiller for 6 weeks, dreadful side effects from it so much so my stomach could only take water or tea. Had to put Hydrea aside + all meds with the exception of warfarin, for a few weeks. Had just started back on hydrea when my Haematology Clinic appointment was due. Lo & behold all my blood levels were within the normal range! Dr didn't renew my prescription on that account. 4 weeks later my next appointment arose, again blood levels ok, so roughly 2 months without any med or blood letting. 3rd visit Platelets were elevated, back on hydrea again 3days per week. During the off med period, my energy had improved tremendously, my hair ceased to fall out! But now back to square one even on 3 Hydrea in the week. I got a temporary reprieve from meds so perhaps might give other PV positive ppl a bit of a lift, a little miracle took place!

Lori, Volunteer Mentor | @loribmt | Jul 23, 2023

In reply to @mags17 "I have been diagnosed with PV Jak 2 mutation, 2 years ago this month, started off..." + (show)

Hi @mags17 Unfortunately there is a professional registration necessary to get into the Medscape…however, I found a way for you to be party to the good news. ☺️

Here are some links to the medication referred to for the treatment of Polycythemia Vera. It’s still in trial testing but showing favorable results!
Rusfertide:
Info about ongoing testing and results
https://www.onclive.com/view/rusfertide-improves-responses-meets-primary-end-point-of-revive-trial-in-polycythemia-vera
Few more earlier articles about Rusfertide:
https://ashpublications.org/ashclinicalnews/news/5878/Rusfertide-Leads-to-Hematocrit-Control-in-Patients
https://www.cancernetwork.com/view/clinical-hold-on-development-of-rusfertide-removed-by-fda
How are you feeling now that you’re down to HU 3 times per week? Experiencing fewer side effects?

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