Should I push harder for tests to rule out essential thrombocythemia?

[lilyak]

I have a complex medical history, mixed connective tissue disease, RA, eosiniophilc esophagitis, hypopituitarism, adrenal insufficiency, exercise anaphylaxis, a bunch of things that are unrelated, some serious, some annoyances. I have extremely high bone density, so have degenerative spinal disease and had a four level spinal fusion a year ago. Because of my RA, I've been getting monthly blood tests, which have picked up that my platelets have been elevated for the last year (maybe longer, thats as long as I've been having them copied to me). They are not very elevated, always between 550 -600, normal range is 150-400 at my lab.

I have asked two GPs, my rheumatologist and my endocrinologist to rule out essential thrombocythemia, all say they'll look into it. But don't. I have macrocytosis, the pathology doctor did a blood smear 6 months ago off his own bat (apparently after 6 months of elevated platelets they're supposed to do that) that showed anisocytosis but my GP ignored it. I asked for vitamin B studies, B12 and folate are fine. I asked for an iron panel, but only got ferritin, which is mid range, so fine.

This last year I started getting ophthalmic migraines, blurred vision. I have fatigue that is like being hit by a bus, and the last two weeks I can't exercise anymore...too hard. And my hands and feet are burning and numb. Especially my feet, I can feel touch, but the sensation isn't normal and I can't tell hot from cold. I've cut my foot and not felt it, Ive burned my hand on the stove and not felt it. I use a cane to walk because my balance is off, and its hard to walk on feet you can't feel properly. I put all of this down to worsening RA, but I now think its something else. I've had an MRI looking for MS that was clean. I asked my GP to do the genetic testing or maybe a bone marrow biopsy to rule out essential thrombocythemia but she refused, as its "very rare" and couldn't be the problem.

I'm 50 years old, and I just need to know if I should push harder to get to the bottom of this, or is my GP correct, and that the diagnosis is unlikely. Any info and advice you have to offer i am very grateful for.

thankyou

Lily

[hunter5582]

There are certainly reasons that your platelet levels could be elevated, including the level of inflammation you experience. It makes eminently good sense to rule out the presence of a MPN given your complex history. You could start with a simple blood test, looking for the three driver mutations (JAK2, CALR, and MPL). If your insurance will cover it, there is a more detailed analysis called a MPN Myeloid Panel. It includes the three driver mutations and a host of non-driver mutations. Here is one example of that. integratedoncology.com/test... .

Given all you are dealing with, it would be prudent to check. I do not know which healthcare system you are in, but in all systems assertive patients perceive higher quality care. Passive patients do not. You are asking a reasonable question. Insist on an answer.

[lilyak in reply to hunter5582]

Thank you so much for your detailed response, I very much appreciate your thoughts and the information. As luck would have it my neurologist had a cancellation and I saw him today. He reviewed my symptoms and recent lab work and has referred me to a haemotologist. He didn't name the disease, but he said there was a rare disease that we need to rule out. So I will find out one way or the other in a few months, which is relief. Thanks again!

[hunter5582 in reply to lilyak]

Well you found your way to the MPN Forum, so I expect you know what "rare disease" the doc was referring to. If you can start with a hematologist who is an MPN expert, you will be better off if you do test positive. Here is a list mpnforum.com/list-hem./ .

I also have few complicating medical conditions. One thing I found helpful was to base some of my more specialized care out of the same institution. It facilitates getting the care team to collaborate.

Do please let us know how things turn out,

[lilyak in reply to hunter5582]

Thank you so much! I've been reading her over the last day or two, and now realise how important it is to get a hemotologist who specialises in MPNs. That is IF I test positive, and I probably wont, but I'm so glad that I will know for sure, one way or the other. If its a positive result, I'll seek out one of the doctors on the list. It will mean travelling, but sounds like that is worth doing for proper treatment.

It is so hard to get doctors to talk to eachother! My endocrinologist once told me to tell my rheumatologist what she'd said, write down his response and then make an appointment to tell her what his opinion was. I said "Could you not just ring him and talk to him directly?" She gave me the death stare! And she didn't talk to him, but she did write a letter to him. You would think that doctors would be keen to talk to eachother about complex patients, but it seems like some of my team just find it a chore!

Anyway, thank you again. My appointment is in June and I'll let you know how it goes

[hunter5582 in reply to lilyak]

Oh brother! I have more specialists than you can shake a stick at. Sometimes feel like I need to hit them with a stick to get them to collaborate! Well, not really. I don't actually hit them with sticks. My specialists are really great, but often work in such separate systems that communication can be difficult. That is why I serve as my own Medical Case Coordinator. I insist all of my docs know what all the others are doing. I provide each of them with copies of all critical reports, notes, and updates even when they do not "need" them. Your body is an integrated system and sometimes docs need help remembering that. You have to push for holistic care or you will not receive it.

Do let us know how things go.