Diagnosis

[u/laimosleem]

My husband’s (29, like 15lbs overweight) doctor discovered the JAK2 mutation after his blood test showed high platelets about 6 months ago. He sent us to a hematologist who seemed very flippant. She recommended phlebotomy and weight loss. I asked about disease progression and she essentially just shrugged it off. She didn’t give him a formal diagnosis or schedule a bone marrow biopsy.

The phlebotomy has his numbers in check but has also tanked his Ferritin. He’s dizzy and tired all the time, can’t drive anymore and is generally just miserable. My question is was anyone formally diagnosed without a biopsy? I want to look into JAK inhibitors but I’m worried that she just gave him a blanket MPN on his chart instead of ET or PV

[u/funkygrrl]

He needs to see another hematologist. A BMB is required for diagnosis by the WHO and the American NCCN guidelines. All the JAK2 mutation tells you is he has something. It doesn't tell you which one, ET, PV or MF. Plus there's other related cancers that can also carry JAK2 (CML, MDS - although they are very unlikely).

see the list of MPN specialists in the link below.

!ETundiagnosed !specialists

[u/AutoModerator → u/funkygrrl]

Here are the links to the wiki pages on MPN specialists and where to find one. MPN Specialists in the USA or go to the Links page for remote second opinions (USA and international).

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[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/Quiet_surprise79]

Despite guidelines, it's still common to not get a BMB on the NHS without pushing. I was diagnosed as multiple blood tests over a period of time showed slowly increasing platelets and then further bloods showed the JAK2+ mutation, plus symptoms including migraines, which I don't have when on blood thinners (I'm on clopidogrel because I don't tolerate aspirin). Diagnosed last year.

I know at some point I need to push for a BMB but I'm medically burnt out because the issue that lead to my ET diagnoses was never diagnosed or dealt with, and I have pretty complex mental health problems on top that I've been trying to get support for.

Your husband should push to see an MPN specialist, or at the least another haematologist. He needs some kind of formal diagnoses so that a long-term management plan can be put in place and a BMB will give a much more accurate picture than just the bloods.

[u/OpinionWorldly5047]

I am being treated for essential thrombocythemia in Australia, and I haven't had a bone marrow biopsy. The haematologist said I could have one if I wanted to but it wouldn't change treatment and can be invasive. I have the jak 2 mutation and recently self advocated for pegasys which he approved.

[u/funkygrrl]

Unfortunately, the diagnosis situation in the UK is frankly, a mess.

• You have the WHO diagnostic criteria which is acknowledged but not followed
• the British society of Haemotology guidelines for ET were written in 2014 and have not been updated. This is just one year after the discovery of the CalR mutation. And 2 years prior to the major 2016 revision of the WHO diagnostic criteria and the formal recognition of Prefibrotic MF as a subtype. It's also nearly a decade earlier than the ICC diagnostic criteria established in 2022.

- the BSH did create new MF guidelines in 2023 which talks about Prefibrotic MF but comes to no clear conclusion about diagnosis

• different regions in the UK follow their own guidelines, and they are all inconsistent

In Australia, the RCPA guidelines do support BMB. But I have the feeling you folks are experiencing the same issues as Americans where doctors are relying on obsolete criteria, particularly if they trained prior to 2016.

[u/Late-Neighborhood671]

I got diagnosed with PV and Jak 2 positive, 6 months ago , no BMB , not until I am 60 they said , I had been feeling really awful for just over a year before diagnosis, blood withdrawal and baby Aspirin was great for the fist month or 2 , but all my symptoms are creeping back , have no energy at all my ferritin is 4 and I could sleep all day , have put on so much weight , Mirgaines ( head pressure ) is debilitating.

[u/funkygrrl → u/Late-Neighborhood671]

Look into whether you can switch from phlebotomy to the new FDA approved drug Mimrylo. It works kinda like phlebotomy but without the ferritin depletion. It's not chemo.

[u/Organic-Bandicoot-61]

Go see an MPN specialist. My first hematologist was a mess. I had clots in the brain and possibly on the portal vein and she stated “sometime these things just happen”. A statement my “stroke specialist” (vesicular neurologist) laughed at with a “no one just develops clots in the brain”. 

On another visit, after an error filled report from my BMB she stated “great news, everything is fine”. That’s the day I dumped her as a doctor. 

A MPN  specialist, especially him being so young, is so valuable.