JAK 2 mutation test positive - next steps
Posted , 4 users are following.
Hello everyone, New to this forum. A little background. I'm a 49 yo female living in Ontario, Canada. I was recently referred to internal medicine at my local hospital after my primary physician noticed my rbc, hematocrit and hemoglobin levels have been continuously elevated over the past couple of years along with my WBC, mainly neutrophils. I have periodic bloodwork to monitor TSH level as I have Hashimoto's Hypothyroidism. For context, my last CBC was:
WBC 13.3 (range 4-11) the highest it's been from the 7 labs I have copies of is 14.6
Neutrophils 9.2 (range 2-7.5)
RBC 5.15 (range 4-5.10)
Hemoglobin 167 (range 120-160)
Hematocrit .480(range .350-.450)
Platelet 313 (range 150-400)
My CRP & ESR were both well below range so no inflammation. No infections that I'm aware of and Creatinine also normal which would help identify if there was dehydration.
Various symptoms that seem to come and go in waves include headaches, burning red eyes, chronic pain in hips and legs and feet (this symptom is consistent and it's difficult to know if it's muscle or bone pain), red flecks under the skin on palms of hands (that don't itch or blanch and never go away), periodic bouts of severe itching, hot flashes and excessive sweating & dizziness & fatigue, some numbness in extremities and intermittent chest pain.
I should also point out it was discovered in 2016 that I was severely anemic (ferritin was <5 and B12 was also low). I experienced painful periods with heavy bleeding, including clots so I was referred for an endometrial ablation. I had the procedure done in October, 2016 and periods stopped. Ever since, RBC counts have been continuously on the rise along with WBCs.
Saw internal medicine in November of 2018 who ordered JAK 2 V617F mutation and EPO test along with abdominal ultrasound. Just got results back last week. Ultrasound came back fine but I tested positive for JAK 2 mutation and EPO was low normal. Doctor indicated my history of heavy bleeding prior to ablation likely masked this issue I'm now encountering. In essence, my body was previously blood letting naturally. Anyhow, he prescribed low dose daily aspirin and is referring me on to hematologist for further consultation and care. I'm currently awaiting a call for that appointment to be scheduled. He did mention that bloodwork and symptoms point strongly towards either PV or ET although I would expect my platelets to be higher if it were ET.
My questions are:
- What other testing might the hematologist order apart from a bone marrow biopsy?
- For those JAK 2 mutation positive, were you tested for any other gene mutations?
- Is pain in the extremeties something those with PV potentially suffer from?
Thank you in advance for reading my post and any input you may have.
1 like, 4 replies
jo49517 lashigirl
Posted
Hi there. I am 49 year old female from New Zealand. I was diagnosed with PV almost 4 years ago. For me there was no need to have a biopsy, all was done with normal blood tests. I had all of the same symptoms as you along with many other nasty ones. I also suffered from pain in my joints and muscles. In my case it took me almost 3 years to get my symptoms under control and in the last year I am finally feeling like a normal 49 year old with the help of great professionals.
To get it all under control there can be a bit of trial and error as everyone's body reacts so differently to the illness it can take a while to figure out what is best for you. Just always listen to your body and work closely with the professionals and hopefully you can get it under control soon.
All the best
Jo
lashigirl jo49517
Posted
Hi Jo!
Thank you so much for the response. Oddly enough, it's the pain in my lower extremeties that first lead me to see my primary physician 2 1/2 years ago. Apart from that, I hadn't seen the doctor since my son was born in 2007. That initial visit lead to bloodwork and so on. I've since had ultrasound on hip, x-rays of spine and pelvis, rheumatoid and lupus blood tests all came back negative, nerve conduction study negative and still no answer on my pain. All the other symptoms I chalked up to getting older, hypothyroidism or previous anemia. Taking each in isolation, I sort of explained them away. Either way, I'm here now and it seems we're finally getting somewhere. I'm glad my doctor had the good sense to refer me on as a precaution. Appreciate you sharing your experiences thus far. I will likely be back with more questions after I see the hemo or even if it's just an update. Take care 😃
angela_o..o lashigirl
Posted
Hello there,
You provided a lot of information there and, as you say, some of the symptoms such as the red, itchy eyes, sound more like hypothyroidism than polycythaemia.
I am coming up to 68 and was diagnosed in January 2016. My diagnosis came after I had cut my finger on New Year's Day and the finger went blue after a few days. Then another finger, then all the fingers and the side of my palm. Then a dull pain like a toothache in all the blue parts. Then odd little pinprick patches on the palm of my hand.
This lasted for several weeks. Eventually I went to my GP and he referred me to the hospital where blood tests were done. I was given a diagnosis there and then which was confirmed by a spleen ultrasound. No other tests apart from the JAK2 test, were thought necessary. I am JAK2 positive.
The cut on the finger was a red herring. Nothing whatsoever to do with it.
But the dull pain and the pinprick spots on the palm sound similar to your experience. Both, I think, are linked to a high haematocrit level.
lashigirl
Posted
Thanks for the additional insight Angela. It is true, when you have multiple ailments that have overlapping symptoms it's difficult to know what's contributing to what. In addition, when you're in chronic pain, it sort of becomes your new "normal" and you may not be as cognoscente. I'm anxious to just get to the bottom of it, then I can at least accept, deal and move on. In the meantime, knowledge is key I suppose. Thanks again.