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.

ITP is an autoimmune disease,
also called idiopathic
thrombocytopenia, that attacks the
body’s platelets, so you don’t have
enough platelets in your blood. ET is a overproduction of platelets and ITP is the under production of platelets. No known cause as far as I know. But having MDS at the same time probably makes his diagnosis extremely rare. Wondering how he was diagnosed. Was it based on a molecular panel or a BM Aspiration/Biopsy?

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@mjpm2406

ITP is an autoimmune disease,
also called idiopathic
thrombocytopenia, that attacks the
body’s platelets, so you don’t have
enough platelets in your blood. ET is a overproduction of platelets and ITP is the under production of platelets. No known cause as far as I know. But having MDS at the same time probably makes his diagnosis extremely rare. Wondering how he was diagnosed. Was it based on a molecular panel or a BM Aspiration/Biopsy?

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It started with a little nose bleed that persisted for a couple weeks. He had some blood work done and that night he was told to go to the E.R. Transported the next day to Rochester and diagnosed within a week. Bone marrow and lots of blood tests. Platelets got as low as 2K

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@motherofdragonsdk

It started with a little nose bleed that persisted for a couple weeks. He had some blood work done and that night he was told to go to the E.R. Transported the next day to Rochester and diagnosed within a week. Bone marrow and lots of blood tests. Platelets got as low as 2K

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Did they do a molecular panel to determine which genes have mutated? The reason I ask is I have MDS/MPN Overlap with Thrombocytosis which like your son is two different blood cancers. The bone marrow aspiration and biopsy results which were done at Sloan were confusing as they indicated multiple issues including MF but the molecular panel cleared up the confusion when that test indicated I was JAK2 and SRSF2 Positive. My doctors at Sloan are huge fans of the molecular panel so you might want to pursue that test. Good luck.

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@lisadej1

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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I am Jak2 and this was diagnosed after 2 mild strokes in which I experienced numbness in my left hand, inside my left cheek and tingling of my left foot. Both strokes occurred in the sa.e week. My platelet count was very high and my BP shot up well over 250. I am 75 and otherwise very healthy. I am on aspirin, hydrea, and bp meds and doing fine but am extremely tired most of the time. How do you all handle the fatique?
.

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@barbie75

I am Jak2 and this was diagnosed after 2 mild strokes in which I experienced numbness in my left hand, inside my left cheek and tingling of my left foot. Both strokes occurred in the sa.e week. My platelet count was very high and my BP shot up well over 250. I am 75 and otherwise very healthy. I am on aspirin, hydrea, and bp meds and doing fine but am extremely tired most of the time. How do you all handle the fatique?
.

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I don’t get overly fatigued but the Hydea does give me an upset stomach that lasts for 30 minutes or so. I force myself to go to the gym for 60 minutes 4 times per week. My MDS/MPN is currently under control but I also have 4 leaky heart valves. Two minor and two mild-to-moderate. I get an echo every six months to check on those leaks. My blood cancers were most likely caused by exposure to toxins at Camp Lejeune, NC as the drinking water there has been contaminated since 1954. I was also exposed to dioxin (Agent Orange) in Vietnam. I assume the same toxins that caused my blood cancers may be responsible for the damage to my heart valves. Guess I’ll never really know. I also share something you have. I have neuropathy of both my feet. I was diagnosed with HSN Type 1 years ago. HSN is hereditary neuropathy which runs rampant in my family. Comes down on the X chromosome so thank you mom and grandma. I do get fatigued but I know I have to keep moving. I don’t have high BP so I can’t offer you any advice on that. I assume your doctor will tell you to excercise, excercise, watch your weight and watch your diet. Good luck with your treatments

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Im recently diagnosed with acquired von Willebrand and Jak2, my platelets are around 600. I was put on 500mg Hydroxera then 3 weeks later 1000 mg of Hydroxera in APRIL 2019 and by May 5 I had flu like symptoms, fever 101.3, body ache etc. I stopped taking it for about 10 days was put back on and in 48 hours the symptoms were back. So Im one of those rare people who is allergic to Hydroxy. Interestingly my platelets fell to 163 with a 1,000mg dose. Is it possible that I was over medicated and that caused the reaction? It is clearly the best option as Allegraride may cause ventricular arrhythmia and Interferon makes people feel like they have the flu. My hematologist is not as concerned about bleeding as the blood clots that may result from the Jak2 mutation. My echo was great and Im otherwise healthy active and fit. Of interest to me in these discussions it is possible to have ET/Jak2 and not express disease. Is that true for Acquired Von Willebands/Jak2?

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Seems to me that the normal platelet range is between 200 and 400 so if your platelet count fell to 163 your Hydroxyurea treatment plan may be overly aggressive. Time to have a discussion with your Hemotologist or Oncologist. Good luck.

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@barbie75

I am Jak2 and this was diagnosed after 2 mild strokes in which I experienced numbness in my left hand, inside my left cheek and tingling of my left foot. Both strokes occurred in the sa.e week. My platelet count was very high and my BP shot up well over 250. I am 75 and otherwise very healthy. I am on aspirin, hydrea, and bp meds and doing fine but am extremely tired most of the time. How do you all handle the fatique?
.

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Hi Barbie 75….I also have jak2 and take 500mg Hyderabad six days a week. I still have extreme fatigue so I just take the time to put my feet up and rest my body or get right into bed. This seems to work. Mornings are the best part of my day but by noon I feel weak. Good luck

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@claire39

Hi Barbie 75….I also have jak2 and take 500mg Hyderabad six days a week. I still have extreme fatigue so I just take the time to put my feet up and rest my body or get right into bed. This seems to work. Mornings are the best part of my day but by noon I feel weak. Good luck

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Even though you take hydrea six days, do you still
have symptoms of PV? If so, what are your symptoms and how do you handle them?

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Is anyone in this group from Maine???

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@barbie75

I am Jak2 and this was diagnosed after 2 mild strokes in which I experienced numbness in my left hand, inside my left cheek and tingling of my left foot. Both strokes occurred in the sa.e week. My platelet count was very high and my BP shot up well over 250. I am 75 and otherwise very healthy. I am on aspirin, hydrea, and bp meds and doing fine but am extremely tired most of the time. How do you all handle the fatique?
.

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I am tired some in the morning but otherwise once I get going I’m ok. I wonder if it is your BP meds making you tired? How’s your diet? Do you take any supplements?

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@barbie75

Even though you take hydrea six days, do you still
have symptoms of PV? If so, what are your symptoms and how do you handle them?

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Hi Barbie……I have jak2…..myeloproliferative neoplasm, I believe it is similar to pv. Chronic fatigue most of the time, poor balance and occasional nausea. When I feel weak I try to rest often and for at least two hours at a time. I usually go to bed by 6 o'clock just to relax and watch tv

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