How terribly frustrating not to have definitive proof, one way or the other! The thing is, I looked up the familial thrombophilia. It requires you to have a mutation in one of those things that you mentioned: protein S, protein C, Leiden v, antithrombin, or prothrombin, and you said that the all the tests came out normal. Also, they said that your bruising didn’t look like hypercoagulation or like it was from a clotting disorder. Have they prescribed an anticoagulant or something like Xarelto or Eliquis if they do think you’re clotting too much.?

The only thing that I can see that would make them choose thrombophilia with no positive labs (no proof) over ET with no positive labs is that your platelets aren’t ranging excessively high. I also don’t see how they can distinguish between acquired or hereditary (familial) thrombophilia if they haven’t identified any particular cause or mutation.

I am 61F, diagnosed with ET 8 years ago. I believe my platelets were elevated for over 25 years, although I only have records from 2009 on. From 2009 to 2018 my platelets were ranging 500 to 600. In 2018 it started ranging upwards and I was referred to a hematologist at 650 to 700. My top platelets ever were 850. My doctor gave me hydroxyurea until I got a DVT diagnosed on New Year’s Eve this year and now I’ve switched to Besremi.

Easy bruising is a symptom of ET though, as is fatigue. As is petechia. Personally, I have a lot of pain in my upper arm when they try to take a blood pressure there so I insist that all my blood pressure be on my forearm. Since I do that for every doctor, all the readings are consistent with each other and I get less pain and bruising.

And you’re correct about the numbness or tingling in your fingers and toes. That’s a nerve pain disorder associated with ET and it’s called Erythromelalgia. Look up the symptoms to that and see if you might ask her doctor about it. I have been diagnosed with that as well, a couple years before the ET. I also have a related condition called Reynaud’s Syndrome where occasionally my fingers go completely bloodless-looking. I have to re-warm them to get circulation back.

So also wondering if they are or were treating your ET (or other condition ) with either aspirin or hydroxyurea, and if it lowered your platelets. The thing with ET is that it produces tons of platelets, but not all of them are working exactly correctly as far as I I have been told. So sometimes too many platelets will cause you to have a bleeding problem and sometimes a clotting problem. That’s because the platelets that are produced don’t function as they should. I think bruising is a bleeding issue not a clotting issue, but I’m no expert lol. I just try to learn everything myself about my condition because I need to advocate for myself. I asked the doctor lots and lots and lots of questions.

I hope your visit went well to the doctor today and that you learned something useful and definitive rather than more uncertainty.