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.

@ettap
I was wondering if you could give me any updates on your case. I have a similar case, jak2 postive , was told i have ET although my latest blood test was all within normal range. Usually have high platelet counts, just a little higher than border line. I feel normal, but worried. Im on baby asipirine once/2days. The more you read the more you freak out.

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@misty45

I'm happy to share my experience. #1. No, do not need to give blood. The Hydrea is toxic enough to kill the excess platelets. #2. I have experimented over the years to cut back a little from the prescribed dosage simply to minimize the amount of toxicity I'm consuming. My Docs have not liked this kind of fooling around with the dosage. So I've been steady at 6 days a week, no Sundays for about a year. No side effects from the Hydrea after the initial first month twenty years ago. #3. I still have no symptoms of this strange blood disorder called ET, regardless what my count is on any given day. I go every 3 months for a cbc. It puzzles me that at 72, I still feel the same with a count of 480 as I did at age 40 when I was diagnosed with a count of 800. #4. My two Docs (first one retired) have dangled the ultimate fear over me since the diagnosis, but so far my ET has not morphed into leukemia. Having no symptoms and in disbelief, I went to the Scottsdale Mayo Clinic for a second opinion at some point in the 1990s. Same diagnosis. Very disappointing because I was really convinced that nothing was wrong with me. Thanks for sharing the NIH info. I always like to run across updated information on PV,ET, and other blood disorders. You may never progress to anything more advanced. Best wishes.

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@misty45 Thank you so very much for sharing your ET experience. My daughter ( age 39) was diagnosed with ET a few months ago- not JAK2 but CALR. She started Hydrea 1 pill – platelets went from 1.5 million to 900,000 added another 1/2 pill every other day – platelets down 800,000. Due to the long term use of Hydrea she changed to interferon. After 3 weeks on interferon her platelets are back to 1.2 million. Can you tell me how many Hydrea pills you take each day? I am thankful you are responding to the Hydrea and no symptoms.

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Hi, I'm jumping in because I have ET with Jak2 positive. I am on Hydrea 500mg a day, 4days a week and a aspirin daily. I don't think I am having side effects but I also have COPD & new stomach issuses , which the stomach upset could be related to the Hydrea but there has been no confirmation.

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I have a question and this might already have been discussed but has anyone ever had back spasms/ left side back pain, left shoulder pain and or neck pain?? I Have MS in my Brain and had pushed it off to but now i am questioning if the Jak 2 is causing it. Any suggestions or thoughts? TIA

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@ajordan1982

I have a question and this might already have been discussed but has anyone ever had back spasms/ left side back pain, left shoulder pain and or neck pain?? I Have MS in my Brain and had pushed it off to but now i am questioning if the Jak 2 is causing it. Any suggestions or thoughts? TIA

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The other thing i am wondering is at what age where you diagnosed and what the treatments have been?? My doctor wants to take pints of blood monthly from me (which hurts and leaves my veins hurting) because medication is not an option as would have to be on it for the rest of my life. What is everyone else doing??

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@ajordan1982

I have a question and this might already have been discussed but has anyone ever had back spasms/ left side back pain, left shoulder pain and or neck pain?? I Have MS in my Brain and had pushed it off to but now i am questioning if the Jak 2 is causing it. Any suggestions or thoughts? TIA

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I am JAK-2 positive and I have not experienced back spasms, left side pains, left shoulder pain or neck pain.

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@chadknudson

I am JAK-2 positive and I have not experienced back spasms, left side pains, left shoulder pain or neck pain.

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Ok thank you

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@ajordan1982

The other thing i am wondering is at what age where you diagnosed and what the treatments have been?? My doctor wants to take pints of blood monthly from me (which hurts and leaves my veins hurting) because medication is not an option as would have to be on it for the rest of my life. What is everyone else doing??

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I was diagnosed at age 46 with Polycythemia Vera and am JAK-2 positive. My treatments have been monthly bloodwork and phlebotomies when my hematocrit exceeds 45. I was put on an aspirin regimen where I take one 81mg aspirin daily, put on a hypertension medicine, and other than that I just focus on eating healthy and getting exercise.

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That is what I have and what my treatments are as well I just do not know much about it at all

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@ajordan1982

I have a question and this might already have been discussed but has anyone ever had back spasms/ left side back pain, left shoulder pain and or neck pain?? I Have MS in my Brain and had pushed it off to but now i am questioning if the Jak 2 is causing it. Any suggestions or thoughts? TIA

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I do have those symptoms, ET. Not sure if its because of some medication im taking for my thyroid or if its tension. Hopefully will know soon since ill stop medication for few days and observe

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Would you mind keeping me posted on what you noticed? I have ms as well and they saying not related to that so wondering if to the blood

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@susanellis

@misty45 Thank you so very much for sharing your ET experience. My daughter ( age 39) was diagnosed with ET a few months ago- not JAK2 but CALR. She started Hydrea 1 pill – platelets went from 1.5 million to 900,000 added another 1/2 pill every other day – platelets down 800,000. Due to the long term use of Hydrea she changed to interferon. After 3 weeks on interferon her platelets are back to 1.2 million. Can you tell me how many Hydrea pills you take each day? I am thankful you are responding to the Hydrea and no symptoms.

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@Susan Ellis I take 2 Hydrea a day every day. Up until recently it kept them between 350,000 and 400,000. Recently they have gone up with no changes in dosage. Had a bone marrow biopsy 2 days ago (no results yet) to see it there have been any changes in disease (ET) with JAK-2

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@esperanzam

@Susan Ellis I take 2 Hydrea a day every day. Up until recently it kept them between 350,000 and 400,000. Recently they have gone up with no changes in dosage. Had a bone marrow biopsy 2 days ago (no results yet) to see it there have been any changes in disease (ET) with JAK-2

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@esperanzam thank you so much for this information. I pray you get good results from your biopsy. It really helps when I connect with real people concerning ET. It is still so new to my family.

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@susanellis

@esperanzam thank you so much for this information. I pray you get good results from your biopsy. It really helps when I connect with real people concerning ET. It is still so new to my family.

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I am + JAK2 and just had a biopsy and they still don't know for certain that I have ET but my blood work is normal except my platlets are high in the 580s. I had a stroke last year and I'm only 49 the main symptom was numbness and tingling in my hands and after the stroke burning sensation in my feet. Nobody was listening to me until I pushed for further testing and was positive. They have started me on hydrea and no bad side effects. Just hope it brings my platlets down so I don't have another stroke.

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@susanellis

@esperanzam thank you so much for this information. I pray you get good results from your biopsy. It really helps when I connect with real people concerning ET. It is still so new to my family.

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@susanellis@I do know what you mean about connecting with others who have the same thing you do. It is not easily understood. Most know I have Thrombocythemia but since I have had some complications and changes, when they found out I am actually on chemo and it is cancer, they are shocked. I have had very little if any side effects from the Hydrea for 3 1/2 years. I am thankful. Thanks for the best wishes. I do have lung problems and other things but we are trying to figure out what is what and if the ET has changed and treatment needs to changed. Sometimes it is hard to sort it all out, especially for doctors who do not specialize in these conditions. I should have the results from the bone marrow biopsy which I had this past Tuesday in 2- 2 1/2 weeks. Maybe this will provide some answers for my newest problems.

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