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CalR mutation ET and constitutional symptoms

Posted by akiannejad123 @akiannejad123, Sep 21, 2019

About 4 months ago I had some disturbing symptoms like headaches, vertigo, back pain, I still have left shoulder pain that radiates down my arm, itchy skin, and fatigue. I went to the doctor because I felt like trash and asked for a blood test because I thought it was my thyroid or change of life. I am 42.
But it showed that I had elevated platelets 681K, I had a repeat test 670K , then they sent everything out for genetic testing and so three months ago I was dx with ET with Calreticulin mutation. When I met with the hematologist I told him about all of this and he told me that those symptoms are not related to the type of mutation that I have because my platelets are not active. I am not challenging this notion or the non-treatment plan he gave me. ALL I want to know if there are others with the CALR mutation that have constitutional symptoms?

They sent me to a neurologist for the arm weakness because they thought it might be myastenia gavis ( I could have told them my floppy eyelids run in my family had they asked) who now wants to diagnose me with a functional medical disorder because I have a weird shoulder pain that does not fit her algorithms of pain and that I said I had stress because when I first started having vertigo symptoms I thought it was stress. I have never been more embarrassed and ashamed to have talked about this shoulder pain in my life. Please tell me I am not crazy.

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Ethan McConkey, Moderator | @ethanmcconkey | Sep 22, 2019

Hi @akiannejad123 and welcome to Connect. That pain and weakness must be so confusing to have with no diagnosis.

Here's more information on Essential Thrombocythemia from Mayo Clinic: https://www.mayoclinic.org/diseases-conditions/essential-thrombocythemia/symptoms-causes/syc-20361064

From the NIH: https://ghr.nlm.nih.gov/condition/essential-thrombocythemia

Note this quote from the NIH page: "Some people with essential thrombocythemia have episodes of severe pain, redness, and swelling (erythromelalgia), which commonly occur in the hands and feet."

Here is another thread on that discusses Essential Thrombocythemia and Fainting: https://connect.mayoclinic.org/discussion/et_essential-thrombocytemia-fainting/

I'd like to introduce you to fellow Connect members @shenriq and and @carlavan as they have experience with ET, although with different mutations and they may be able to offer you support.

Back to you @akiannejad123, how is your pain today? Is the pain constant or does it come and go?

REPLY
carlavan | @carlavan | Sep 24, 2019

Hi, my name is Carlavan and I to have ET with JAK2 mutation, my initial complaint to my primary was always extreme tiredness, headaches, and itchy dry skin. I too, thought thyroid. But after repeated blood workup & over time, she noticed elevated platelets and ordered a referral to a hemotologist who did the extreme blood testing at a lab in Texas. The diagnosis of ET and mutation was given and I was put on Hydroxya and 81mg aspirin. It is a chemo pill that destroys platelets and brings my counts within a normal range under 400,000. I am still tired, but I go great until about 7:00 at night. Skin is still a problem and the occasional headache. But all and all, I look around me each day and know it could be much worse. Good luck to you and I would seek a second opinion. I would want treatment if I were you.

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1 reply
biyashiekh | @biyashiekh | Oct 6, 2022
In reply to @carlavan "Hi, my name is Carlavan and I to have ET with JAK2 mutation, my initial complaint..." + (show)
@carlavan

Hi, my name is Carlavan and I to have ET with JAK2 mutation, my initial complaint to my primary was always extreme tiredness, headaches, and itchy dry skin. I too, thought thyroid. But after repeated blood workup & over time, she noticed elevated platelets and ordered a referral to a hemotologist who did the extreme blood testing at a lab in Texas. The diagnosis of ET and mutation was given and I was put on Hydroxya and 81mg aspirin. It is a chemo pill that destroys platelets and brings my counts within a normal range under 400,000. I am still tired, but I go great until about 7:00 at night. Skin is still a problem and the occasional headache. But all and all, I look around me each day and know it could be much worse. Good luck to you and I would seek a second opinion. I would want treatment if I were you.

Jump to this post

hey carlavan. i am soo sorry to here about you but i can feel you because i was also diagnosed by ET with JAK2 mutation and i had a special condition know as bud chiary syndrome. I was 17 when i got to know about it and it was a severe condition as i had a leakage in my oesophagus. now i am on my blood thinners and last year in dec went through a venoplasty. i have an enlarged liver nd spleen that i am worried about and yeah i also feel confused, lost, tired, and meaningless some days. its 3;36 am right now and i am stressed about my health and wondering if i will have a normal life or life at all.

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nohrt4me | @nohrt4me | Oct 7, 2022

I also have ET-CALR. Occasional dizziness, scotoma (no headache) and other visual distortion, sleeplessness, abdominal discomfort, and fatigue. Also red, burning hands and feet at times

When I was diagnosed 8 years ago, my hematologist told me ET was symptomless, and anything I complained about had another cause. "Probably menopause."

I doubted this because I'd gone through the change 10 years earlier without any of those symptoms. But anybody between 40 and 60 usually gets waved away as "menopausal."

Once I hit 65, "old age" was blamed for everything.

Well ... Thanks to better studies on quality of life like the Landmark Survey, the myth that ET is symptomless has been blown out of the water. Most of us DO have at least the battle with fatigue at least sometimes. That info is gradually sifting down to clinicians, so things are getting better.

When you get old like me (nearly 70), co-morbidities do complicate things. But my family doc and cardiologist are supportive, and I am getting better info from my hematologist.

Dr Ruben Mesa, affiliated with Mayo, has an ongoing quality of life group for MPN patients going. This might be helpful for you. Here is their Website: https://www.mpnqol.com/

Please hang in there. You have nothing to feel ashamed about, and you aren't crazy.

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