JAK2 Mutation and enlarged spleen: What might it mean?

Hi Lisa. Hopefully you will get some definitive answers once you meet with your Hematologist in a few weeks. Until then, it’s easy to google things but that can cause more anxiety without knowing exactly what you are dealing with. It would be helpful to know what your bloodwork showed. For example were your platelets high? Was your hematocrit high? I had high platelets and elevated hematocrit. I saw a hematologist and a bone marrow biopsy was performed which revealed Jak2 mutation. I was diagnosed with Polycythemia Vera. I take 2 baby aspirins a day and go for occasional phlebotomies to keep my hematocrit under 45. I consult with Dr. Tefferi from the Mayo Clinic. I have no other symptoms. Perhaps your symptoms will improve when you begin treatment for whatever your diagnosis is. Good luck to you and the most important thing to do is find a good Hematologist, ask questions and be careful googling information until you know more otherwise you will become overly anxious and overwhelmed. Best to you. Andrea

Hey Lisa! I have pretty Much all The same Symptoms and am JAK2 pos. My platelets and Hematocrit along with my red cells were all elevated. Is anything else “off” on your labs? I was diagnosed with Polycythemia Vera and m being treated for that. Just make sure you get everything checked and do your own research. Many facilities will want a bone marrow test but most diagnosis can be done solely on labs now so don’t jump the gun. Stay positive. It’s hard to wait for answers, I know, but you’ll get through it.

Hi Lisa,
I’m sorry you’re going through this. I know how scary it can be. I have CEL but that’s rare and not likely to be what you have; but it was diagnosed by a specific jak2 mutation. Given the recent additional symptoms you mentioned, you might try calling the office of the hematologist you’re seeing in a few weeks and tell them about your new symptoms and see if they can see you sooner - sometimes they can squeeze you in. Everyone’s situation is different and some of these jak2 mutations are more easily treated, so hopefully that will be your case. I have found this group to be so helpful and supportive so you made a good choice to post here. I wish you all the best

Welcome, Lisa!
Everyone’s story will be slightly different with a few similarities.

We all have a JAK2 gene, but sometimes it turns itself “on”into something like a mutation. In my case, I have ET w/JAK2. That’s essential thrombocythemia (high platelets). For almost 2 years, I’ve been on one baby aspirin every morning (and a second when I fly long distance). Aspirin doesn’t reduce platelets, but it makes them less sticky.

Now my platelets are in the low 700’s, and my heme doc says it’s a matter of time till I start taking HU. (Lots of drugs to reduce platelets, this is usually where they start).

Many people on this site have similar MPNs, and have been living with it for decades. I think of it like high blood pressure - you can’t tell you have it on your own. Easy to treat, but big problems if you ignore it.

Best wishes!

Hi Lisa,
my story is very similar to sregiani— ET with Jak2 mutation — Only my platelets had gone up to 1129, so was put on hydroxyurea on my first visit to the haemo- oncologist
Three weeks seems like a long time when you are the one waiting, but hang in there – – you are on the right path to getting some answers.
Welcome to the club that none of us wanted to join, but you’ll find there are a lot of great people on here with answers and support❤️

A full blood test workup with the hematologist and an exam to determine the size of the spleen are in order. Also, make sure you are checked for iron levels, including an absorption score. I was diagnosed with ET, an MPN, due to high platelets, low iron, and Jak2 18 months ago. I had no symptoms. I take 500 mg of HU, 4x a week, daily iron, and daily baby aspirin. Currently, my overall labs look better, and no complications. My platelets have gone from 800K to 515K, and my hematologist is happy with that number based on looking at all my labs. There are many great support groups that are free that I belong to including the MPN Foundation, Voices of MPN, and MPN Advocacy. MPN Advocacy offers free, monthly online seminars with MPN specialists. They are also available to go back and watch on YouTube. My hematologist is not an MPN specialist, but he is competent, caring, and listens. I am an information junkie and try to know as much as I can about what I am facing. Fortunately, my doctor is fine with me doing my own gathering of information. Take care and wishing you the best!
Karla
https://mpnresearchfoundation.org/
https://www.voicesofmpn.com/register
https://mpnadvocacy.com/

Remember to breathe and stay connected to others on this site more than searching the internet for answers to your questions. My story is similar to others here. I have a long health story related to JAK2 that I shared a couple of years ago that I called the trifecta: ET, celiac disease and an enlarged prostate that lead to surgery , all diagnosed within a month or so. Like many others, my high platelets < 100,000, lead to the JAK2 discovery. I was immediately put on Hydrea. After about 6 months we had to dosage dialed in (thankfully no obvious side effects) and I have been living my best life ever since. My platelets are now running in the high 300’s. I just turned 70 a couple weeks ago. Listen to your doctor, if he doesn’t recommend a second look at Mayo, you may want to think about getting a different doctor if you can. Or at least see about going there on your own, if you can.
If you read the label, Hydrea is very scary. In reality, it is one of the safest treatments for ET and PV. Hang in there.

I think it's important to have a complete blood workup and a bone marrow biopsy and aspiration. My platelets kept going up for 3 years before I had workup which resulted in ET with Jak2 diagnosis. I take HU plus baby aspirin. I was scared at first, but I'd rather take meds than have a stroke or heart attack. While hematologist is good, a MPN specialist would be next step. It seems when platelets and over 60 years old, HU is the first treatment. It isn't as bad as it sounds.....all the best

I was diagnosed with Polycythemia Vera about three years ago. It was explained to me that it was caused by a JAK 2 mutation. Early treatment was phlebotomy and now just meds. The JAK 2 mutation causes an over production of blood cells and those extra blood cells put a strain on the spleen. Mine is enlarged also. So far, as long as I take my meds I don’t have any symptoms or issues. I do need to have monthly blood tests (CBC) taken . All of my cell count numbers are in the high range but have remained stable.

Did you have a bone marrow test? I chose not to. My oncologist/ hematologist said PV can be diagnosed solely off your labs and JAK2 results. I was diagnosed just about two years ago taking both meds and phlebotomies also. Treatment is the same with or without bone marrow biopsy so I feel they just push that for their own studies AND for the cost.