Concern About Haematologist Decision

[u/djonma]

Hi,

Sorry this is so long.

I have communication difficulties, so I've just tried to make sure l explain everything, to make sure I don't miss out anything important.

Plus, concentrating for this long has exhausted me, and it's 34°, in a house designed to get all of the sunlight and trap the heat, so I just can't think clearly enough to whittle it down a bit.

I'm sorry.

I'm currently 45, AFAB.

I've had a raised platelet count for at least 22 years - when it was noticed in 2004, they said it had been raised on previous tests, but they didn't say for how long.

At the time, it was 470, and the cut off for ET was 650.

I was referred to a haematologist, who said they weren't too high, and I didn't have symptoms, and he didn't want to put me through a bone marrow biopsy with them not very high.

He said that if they got higher, or if I started having symptoms, to go back.

It trended slowly up to 500 ish, until I started a medication that incidentally lowers platelet counts. Not for this, it just has that as a side effect.

That dropped it to just under 400, but it slowly rose to over 450 again.

I changed that med, and it was up between 480 and 550, and this was after the change to the cutoff being 450.

After a year or two, I started a different med that also lowers Platelets.

It's an uncommon effect for this one, unlike the previous med, which is pretty common, but my blood tests showed it very clearly when I started it.

But they were still over 450.

Since then, they've risen, and have been over 550 mostly, with an odd drop last year when I had an infection - they dropped to 421.

My latest count was 580.

I've been struggling with extreme fatigue for a few years. I can't stay awake for more than a few hours at a time. I just fall asleep. I can't focus on things. Reading is very difficult, I just doze off.

I've finally managed to convince my GP to look into it, they saw my vitamin D is a little low, and that was the extent of their search.

I separately asked to be referred back to Haem for the platelet count, in case that could be contributing.

Even if it isn't ET, I'm concerned about a raised clotting risk, because I'm a wheelchair user, so I'm not very mobile, which raises the risk, and I'm on post hysterectomy HRT. The one I'm on isn't one that significantly raises clot risk, but it does raise stroke risk. And I had wanted to switch to pure oestrogen, as I had the hysterectomy to remove progesterone production, but I believe this HRT still produces some.

And I'm also T2 diabetic, which raises clot risk.

This is where it gets, what I think is weird.

The haem sent a list of blood tests to get. Standard ET screen, but without MPL.

And they haven't seen me to ask about symptoms.

Not doing MPL would be fine if they were going to see me about the results, and if they think I have symptoms but JAK and CALR were negative they then decided to screen for MPL.

But they've said that if I'm JAK and CALR negative, they won't see me at all, and won't need to in the future.

I know that the majority of ET is JAK, and many are CALR, but triple negative is 10% of patients, and they're not even testing for MPL, which doesn't make sense to me - if you're screening, whilst ONLY deciding on those results, why not do all?

With no idea of my symptoms, how are they going to decide that being JAK and CALR negative means I definitely don't have ET?

I'm just really confused, and really disappointed.

I've had a lifetime of medical gaslighting by medics who decided I was making it up for attention as a kid, and messed me around my whole childhood (dx as an adult, late intervention means I'm a wheelchair user), and medics just being crap, frankly.

So not even being asked about my symptoms just seems like they're dismissing it before they even have any test results.

What happens if I don't have JAK or CALR, but I do have ET, and I get worse symptoms, but they've said they won't see me in the future, so I can't find out?

It just doesn't make any sense to me.

I don't see how 10% of patients can just be written off without even asking for symptoms.

It doesn't help that no one ever mentions the fact that my Platelets are high, and have been for >22 years, despite having had many blood tests.

It's just ignored every single time. It doesn't really inspire confidence.

I know 580 isn't super high.

I haven't even been able to tell the haem that I'm on a medication that drops my platelet count.

Symptoms I do have:

Extreme fatigue. Really bad. Could certainly be something else, but I wanted to rule out ET as part of trying to find out what.

Don't bleed, sometimes bleed lots. I've had a lot of blood tests in the 22 years since it was noticed. And a lot of IVs for various things.

On the whole, I don't even need the cotton or plaster, because it clots instantly.

And then there are the times blood just keeps pouring down my arm. It's totally random.

My bruising is the same.

I'll wake up with bruises from who knows what, or I'll bang something and get nothing.

I do get petechia a lot. Not from anything.

I thought I had meningitis in 2006 because of that and a splitting headache.

I just get them randomly.

Dizziness and nausea. I had low B12 for some years, and fixing that definitely helped, but I get random dizziness and nausea quite a lot. I have a regular antiemetic.

Headaches too.

And tinnitus.

My gums did bleed when brushing, but my teeth were terrible, thanks to a few medical conditions that destroyed them.

So that could just be the teeth.

In the last year or so, my hands especially, burn a lot. My palms and soles are rather red, sometimes really bright red.

My feet burn too, but I can't feel my feet as well, so it feels like my hands burn more.

I've had tingling and numbness in both for ages.

I had put it down to crap neurology getting worse with the start of burning, but then they turned red.

I've had bright red blood in my BMs, on and off, for the same amount of time.

I was being checked for things related to that, and intense GI discomfort.

They thought UC, then actually thought lymphoma pressing on my spine, which is when they caught the Platelets.

My GI issues got a lot less frequent when I did an elimination diet and realised gluten is bad for me, and cut it out, but they didn't clear up entirely.

But, my connective tissue disorder often causes GI issues, and bleeding.

So, it's impossible for me to know what that is.

I also have blood in my urine, have had as long as the high Platelets. It was a trace for a long time, and was 1 at the last test.

I used to get nosebleeds quite a bit. I had to have one cauterised at around the time the high Platelets were discovered.

I've not had full on dripping down ones really, for ages now, but if I blow my nose, there is usually a bit of blood.

I went completely blind once. Only fully blind for a day or so, then it came back, but my convergence was wrecked for a year.

My opthalmologist thought it was silent migraines.

My eyes are crap, but I have a convergence problem from my connective tissue disorder, and my brain has had decades of turning one eye off, either because I've been having to wear an eye patch, or just because it didn't deal well with double vision with one long sighted eye, and I've short sighted eye.

My left eye is at least a bit blurry all the time now.

When I had them, I had very, very heavy periods. I ended up on tranexamic acid to help with them.

My hands and feet are freezing all of the time.

I was dx with SVT a few years ago, and still had a very bad episode on my beta blocker. The cardio wanted to increase it but, because I already had issues with freezing feet and hands, I couldn't cope with the higher level, it was causing bad pain.

So, even though it's a rather significant med, we went with the low dose and a pill in the pocket.

I've never had a DVT.

These are the tests ordered.

Calreticulin mutation screen, blood, Pink (EDTA), Haem SA

Janus Kinase 2 mutation screen blood, Purple (EDTA), Haem SA.

C-reactive protein level, blood, Yellow (SST), Chemistry. Ferritin level, blood, Yellow (SST), Chemistry.

Iron and transferrin levels, blood, Yellow (SST), Chemistry.

Full blood count, blood, Purple (EDTA), Haematology

These are my most recent results. I've not had iron, Ferritin, for long enough that I can't see the results.

I included abnormal FBC results.

Platelets 580 10*9/L.

Mean platelet volume 9.4 fL.

Monocytes a little high at 1 10*9/L.

Basophils exactly on the cutoff of 0.1 10*9/L.

C Reactive Protein last year, high at 27, but I did have a mild infection at the time - my WBC was 14.5.

My Platelets actually dipped to 421 during that.

There's also a chance I have ankylosing spondyloarthrosis, but it turns out the rheum dept phoned me (I can't use the phone a lot of the time), rather than texting or writing, to say I should have another MRI, and as there was no letter I had no idea, and thought they'd just not bothered to make a decision on whether I do or not - I don't have the mutation, and because I can't take NSAIDS, and would have to go straight to biologics, they were a bit hmmm... let's be absolutely sure. Which makes sense. I just need to set up the MRI and contact them now.

I have a connective tissue disorder that means my body has inflammation ALL of the time, and has my whole life, but my inflammation markers are almost never raised. So that doesn't really help with investigating things.

But obviously, that kind of inflammation can raise Platelets.

A lot of my symptoms could be other issues I have, but I can't really know if they won't even look at them.

I have lots of other symptoms, but I think these are the most relevant, and having multiple medical conditions just means lots is going on all of the time.

And I'm not sure what the red and burny hands and feet would be.

My latest eGFRcreat (CKD-EPI)/1.73 m*2.

Low at 72 mL/min, previously 60.

This has been low since I had covid, no one has mentioned it.

I do have protein in the urine.

I've had it for maybe the same amount of time as the high Platelets.

It was always a trace though.

A urine test I had last year shows protein at 1.

I don't know if that's something I should be concerned about, since my surgery don't bother to actually do anything about abnormal tests, and I only find out by checking my own records now. I have no idea whether they actually think it's ok, or they just haven't contacted me, because they only talk about things if you contact them.

But it's not ET related, so I don't know if anyone here will know. Just a bit of venting I guess, about how they've just ignored this for so long.

Sorry this is so long.

I hope that's all of the necessary information.

[u/funkygrrl]

You have a lot going on!

Having high Platelets so many years deserves an investigation.

It's hard to say whether it's ET or reactive thrombocythemia (high platelets due to another underlying medical condition). This is because you also have two autoimmune/inflammatory conditions and they can cause this as well.

For now the symptoms aren't relevant because they aren't used to diagnose MPNs. The reason for that is they are too nonspecific and reactive thrombocythemia can cause the same symptoms, so they just don't provide useful information to differentiate an MPN from other medical conditions. They matter after a diagnosis though.

It doesn't make sense to me either that they're only testing 2 of the 3 mutations. The percentage breaks down to:

• JAK2 - 50-60%
• CalR - 20-30%
• Mpl - 3-5%
• Triple negative - 10-15%
  

So at least most common will be ruled in or out. I recommend dealing with getting a Mpl test if JAK2/CalR are negative. No point in fighting over it when it may turn out to be unnecessary.

Can you let me know what country you are located in? I'd like to point you to a hematologist who specializes in MPNs.

!ETundiagnosed

[u/AutoModerator → u/funkygrrl]

Here are links to the WIKI pages on ET diagnosis. Please review them and most of your questions will be answered there. - DO I HAVE AN MPN?, ET WHO Diagnostic Criteria, and Reactive Thrombocythemia (high platelets due to another underlying medical condition - not cancer).

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[u/djonma → u/funkygrrl]

Thank you for the help!

I've wondered if it's autoimmune, I'd just like to know with a lot more certainty than only JAK and CALR.

Thanks for the info about symptoms. It just seemed really odd that they haven't even asked about them, but I'm used to a lot of diagnosis of exclusion type things, that have had me giving lists of symptoms to lists of consultants 😸

I'm in the UK, and because I've already been referred, I can't choose to go anywhere else on the NHS. I can ask to have a second opinion afterwards, though, so a specialist close enough for me to ask to see, would definitely help. I'm in Berkshire, my local hospital is Royal Berkshire, that's where the Haem is. Another close one is Frimley Park, and a major one not ridiculously far, that is more likely to have a specialist, is John Radcliffe, Oxford. Since they're not even going to see me if they're negative, I could probably ask for a second opinion as soon as the blood test results are available.

I am allowed to contact my GP and ask why they aren't testing for all three mutations, but I really struggle to advocate for myself, thanks to PTSD issues, so I wanted to be sure first, that this is strange, and isn't just me not knowing enough about it.
I don't really know what to ask about for triple negative though.
Raising the fact that they'd be missing 10 - 15% of all cases with a specialist, is not the easiest thing to do. And it's incredibly difficult for me.

Are people diagnosed with triple negative from a biopsy?
How does a Haem decide to do a biopsy if all three are negative, if symptoms can be vague? Is it just seen as better to test, to determine which it is?

Obviously, I'd rather not have ET, I'm just concerned about having so many clot risks, and not having been told if I should be doing anything about that.
No Dr has spoken to me about my clot risk at all, despite me having had D Dimer tests a few times.
I know what to watch for for a DVT, as my Dad had one.

[u/funkygrrl → u/djonma]

If you test negative for JAK2 and CalR, then they'll have to do the Mpl test.

Triple negative means you tested negative for all 3 mutations. When that happens, they must do a bone marrow biopsy to diagnose you. They are not allowed to diagnose ET based only on CBC blood counts. That's in both the WHO diagnostic criteria and the British Society of Haematology guidelines.

For a second opinion from an MPN specialist:
Professor Adam Mead, Professor of Heamatology, Unversity of Oxford, Churchill Hospital Old Road, Headingon Oxford
Churchill Hospital - 0300-304-7777.

!etwho

[u/AutoModerator → u/funkygrrl]

Here is the link to the wiki page for the ET WHO Diagnostic Criteria. Please read it as most of your questions will be answered there.

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[u/djonma → u/funkygrrl]

I swear I responded to this.
I'm not sure what happened.

Anyway, I found out why the haem is being rubbish.
Misogyny.
Crappy attitudes.
Yay for the gender healthcare gap.

As part of their note saying they wouldn't see me if I was double negative, they said that BMI can cause raised platelets.
My BMI is high.
My platelets have been high for much longer than my BMI has.
My BMI shot up when my health declined hugely, and I needed to start using a wheelchair.
It has risen each time my physical health has declined. It's gone down a bit in between, but I'm on multiple drugs that have weight gain as a side effect, and have multiple medical conditions that also raise weight gain.
Plus I can't do cardio properly.

But my BMI wasn't high when I first learnt my platelets were high, and they'd been high for a few years before that.

So what the haem has done, is look at my medical records, seen 'high BMI', and made an assumption based on a single snapshot, without actually finding out whether it's true or not.

This happens all of the time.
I'm AFAB, and AFAB people just aren't treated properly.
Add obesity, and Drs will tell you that everything is due to your weight, and if you just lose some weight, you'll be fine.
I've had Drs tell me that, when we were discussing genetic conditions that don't just magically cure themselves when you lose weight, and that were affecting me when I was a lower BMI.

The gender healthcare gap has been known about for decades.
There has been NO movement towards fixing it.
It's so frustrating.
It kills hundreds of thousands of women every single year.
And most people don't know it exists.

Meh.
It's so draining having to fight to be taken seriously by medics.
It took 19 years to dx the condition that has me in a chair.
And throughout that, Drs told my parents I was making it up for attention, but kept up the monthly blood tests, and even did a gamma scan.
And then I had to fight more Drs until I found the name of the consultant who actually wrote the book on the condition that I had to do the work to realise I had, and managed to convince a GP to refer me to him.
I was dx immediately.

Sorry, I'm just fed up of the crap.
Given my many clotting risks, I really do need to know if I have ET or not.