CalR mutation ET and constitutional symptoms

Posted by akiannejad123 @akiannejad123, Sat, Sep 21 5:56pm

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.

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?

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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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