Sorry all I just need to vent. Feeling frustrated. Also posted on uk facebook post- wondering if you have any thoughts!
Still no further forward. Following 2x bone marrow biospies (fainted in first so only aspirate) which came back abnormal and then they did a trephine. Now almost a year on from my first appointment . I had a letter today after second biospy to say 'mild changes in marrow' not diagnostic of ET or other MPN. Blood gene tests/ NGS came back negative for the main drivers but did have 2 genes of unknown significance around 50% burden. My bisopy report (I can see on portal says increase in megakarocytes). So feel like back to the drawing board but also anxious as I had amouroux fagaux (mini stroke in the eye) last September (on clopridogrel) but worried about further clotting issues. Platelets hover around 500 mark. So I don't know if they saying its likely but not enough evidence to diagnose. Is there any illness before ET that's milder? Surely you either have ET or not? What I don't want to happen is left to wait and be at increased risk of stroke/ clotting and would like a diagnosis of some kind. I return to see consultant in 3 weeks. Any questions I should be asking? Thank you
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kay79879
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I wish I could help you with getting information from your doctors. It must be so frustrating. Is aspirin okay for you to take? Aspirin can help keep platelets from clumping together, but it isn't a good idea for everyone.
It is possible to have a condition that falls in to a borderline range or is undetermined. It is not always completely black and white. There is a diagnosis of MPN, unclassifiable [MPN-U]. None of us could tell you whether you fall into this diagnosis. This would be something to discuss with a MPN Specialist. Here are a couple of links to learn a bit about MPN-U.
It will be important to know what the "2 genes of unknown significance around 50% burden" actually are. This finding may be highly relevant to what is going on. This would be another issue to discuss with a MPN Specialist.
Clopidogrel is an effective antiplatelet medication. Reviewing your treatment options to prevent thrombosis would be another item to review with a MPN Specialist.
Hopefully, your consultant is a MPN Specialist. It sounds like you have an unusual case and you will need MPN expert consultation.
Hope you find answers soon. Please do let us know what you learn.
As Hunter mentions below, there are MPN UN (Unclassifiable), as well as what is called 'Triple Negative' when none of the known 'Drivers' appear to be present etc...
Next Generation Sequencing (NGS), usually provides a 'Full Panel" of significant mutations along w/ their Allele burdens. Do you have a copy of the Report?
Best bet, as already flagged, is ask your MPN Specialist for some further direct answers to your questions...
If they are not forthcoming, perhaps seeking a 2nd opinion might prove useful too...
Try to stay calm & patient, it is all relatively a new field of research really...
My official diagnosis is MPN-U (unclassified). My hematocrit & hemoglobin were elevated, platelets eventually rose, & JAK2 positive. My allele burden is nothing & my BMB was normal. Now my hematocrit & hemoglobin are both below normal & platelets are high end of normal. I'm also anemic. My MPN doc still thinks I have PV but we'll have to see how this pans out. I share your frustration.
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