My wife tested positive for jak2 and has high platelet count

Oh my. My first thought was a 2nd opinion. More with more experience will respond soon, but genetic mutations at research oncology units have treatment knowledge for mutations. What are high platelets? For me, a BMB was the key to my blood. White, red and all else. How the cells were shaped and how the cells were reproducing. The bone marrow is where the truth lies with our blood. My MDS was confirmed with that test.
If you are near a research hospital, please go. Depends on what state you are in, but there are many and I expect Mayo moderators will give you hope as you journey forward. I was helped greatly my those on this site as moderators in the blood groups have walked through blood cancers themselves.
The Questions to the doctor? I would ask about the JAk2 test and the findings from the BMB and blood tests.

Big question to ask on bone marrow biopsy (BMB) day is when the doc will have results. There may not be time to ask many other questions at the BMB, but you could ask.

Which MPN is more likely: ET, PV, or MF? My guess is that if no other blood counts are off, the doc will say ET.

Once you get results:

What is the immediate treatment plan? May be just aspirin + quarterly blood checks for now.

At what point would other treatment be considered, and what would that be?

If I were 36 and wanted to or might get pregnant, I would ask the doc about whether the disease or treatment would cause problems.

What symptoms or problems should I call the office for?

What symptoms would be an emergency (emergencies are rare with MPNs).

Would a heart healthy diet and daily exercise help reduce clot risks?

Do you recommend a referral to a specialist?

Once you've had a chance to ask questions, you'll have a feel for whether you want to work with this doc.

I have had ET (CALR mutation) for 17 years. I'm 71. Have been on oral chemo for 6 years without side effects. Honestly, my bad back (unrelated to ET) causes more problems than ET most days. But I went from being a very high energy person to one who was more easily fatigued. I wish my husband would pick up on that more.

"He says because the platelet count has been high for so many years it is unlikely it is anything to serious or "she would be dead by now" his words."

I am glad you can't see the steam blasting out of my nostrils. This is the kind of arrogant ignorance I hate. Your PCP (like mine) apparently is unaware that YES high platelets are a big deal.

To be fair, MPNs are so rare that your wife may be her PCP's first high-platelet patient. But that doesn't excuse him (or her) for brushing off a pattern of elevated platelets.

As others have said, there are treatments for ET that work well for most of us.

Keep that in mind, but also understand that high platelets pose serious risks.

They increase the odds of strokes and other CV complications.

And, untreated, they exhaust our bone marrow.

High platelets can also deplete our energy, cause killer headaches and set off allergic reactions including congestion and itchy skin.

Please make an appointment with a hematologist/oncologist. And take to that appointment nohrt4me's excellent list of questions.

Thank you for advocating for your wife!!

She is young. Most of us are diagnosed later in life. I was diagnosed at 69 after having an elevated, but stable platelet level since 2018. The biopsy will help the doctor determine whether she has ET or one of the other MPN diseases. They learn a lot from the appearance of the marrow samples. This is a rare disease, see a specialist if you can because GPs and even a hematologist without experience with the disease may not be that helpful. Also, the doctors can be dismissive about the symptoms once the blood counts are in acceptable ranges. The symptoms can be hard to live with. Different treatments can impact symptoms differently and you need to advocate for changes in treatment that impact symptoms too. Finally, hydroxides, or HU, is the first line treatment for ET. However, not for people who are of child bearing age. There are good patient platforms where patients share information, including some Facebook pages. One out of three UK is particularly good. Sorry, I cannot recall the name. The sites all seem to have similar names. Just search MPN and you will turn up more info. Glad she is getting bone marrow biopsy. That is a first step. Also ask for NGS genetic analysis. This screens for a whole bunch of mutations beside the JAK. It is good to have this information.

You didn't indicate how high her platelet count was. Mine started at 1.4 million and in 2 months was brought down to 480k (our goal) with 5 days a week of 1,000 mg Hydroxy and 2 days of 500.

In my case, the Hydroxy also lowered by white and red blood cell counts so it was a juggling act to balance the dose.

I, also, am shocked at the doctor's response to high platelet count. My diabetes endocrinologist saw high platelet initially, and thought her readings were faulty. She retested and it was worse. She immediately referred me to an oncologist ay Virginia Cancer Institute.

I was diagnosed with Profibrotic Myelofibrosis and high risk (previous colon cancer, aortic valve replacement and diabetes). I have 4 mutated genes (including Jak2). I took the BMB results to the cancer center at University of Virginia and they confirmed the diagnosis.

Part of my problem is that my cancer is rare (1 in 100k) and has only been recognized since 2016. Hope this helps.

In 2018 I was diagnosed with PV, sadly after a stroke and two DVT’s while I was in the hospital recovering
All of my bloodwork was normal prior to the stroke too. As soon as I was discharged, I had the test and was Jak2 positive
Had bone marrow biopsy too and it was normal
Had immediate phlebotomy and was started on hydroxyurea. You are doing everything right advocating for your wife She needs to
be u see the care of a hematologist/ oncologist or a specialist in blood disorders Best wishes to you both

Thank you everyone for the responses. I am in the waiting room as I am typing this and she is getting her biopsy done. A few points of clarification, the discussion with the doctor I mentioned in the original post is a oncologist/hematologist not her pop. I asked the doctor a few questions just now and he seemed very nonchalant about it. He basically told me that he is sure she has an MPN and most likely ET but not sure if she has other MPNs as the biopsy will tell that. He also mentioned that there is nothing we can do at this time regardless of the results, no medication until she is 60 and no lifestyle change that can make things better or worse (like ET mutate into a worse MPN). I don't believe this is true based on my research...

Also wanted to add her platelet is 471 so just a bit above the standard range but based on the doctor he said high is high, 471 vs 900 doesnt tell us anything, 900 doesn't mean it's worse than 471. I also found this to be a bit unbelievable...can anyone confirm?

What? 471 is actually acceptable. Everyone has encouraged you to take her to get the BMB and honestly your first question should have been How will the results change her treatment plan?? I had high platelets, over 800 and elevated red cells and hematocrit. I was just 56. Did JAK2 and it was positive. Previous labs for annual check ups were always normal. I was diagnosed with PV. My doctor asked if I wanted a BMB and we discussed it. He said my treatment plan would be the same, Hydroxyurea and baby aspirin and phlebotomies when hematocrit was over 45.. I decided against it and he was fine with it. Here I am almost three years later keeping it under control with the above treatment. Some people may need this test to mentally accept their diagnosis but it can be done from lab tests alone. Always take your wife’s feelings into consideration and remember that the medical field is a business as well. Even with ins that test is expensive and painful. I wish you both the best care and luck with her treatment.

Yeah, let this guy do his tests and diagnoses, and then ask your wife if she wants your GP for a referral for a second opinion.

My doc is a hemo-onco with blood cancer patients in four counties, and she has just 6 ET patients. Most clinicians have little experience with MPNs, and little interest in us, cuz their textbooks are behind the times and usually say that ET is a symptomless blood disorder/cancer (a point on which some docs prevaricate) and patients live a near-normal life span. Plus there are kids in their waiting rooms with life-threatening leukemias, so MPN patients get less attention.

Researchers have logged ET symptoms, especially headaches, fatigue, and brain fog, for at least the last 10 years. And clot risks have been known for decades. The worst symptom of ET is doctor indifference.