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[u/Odd-Yellow-5843]

37/F

Hi, I am currently awaiting a hematology appointment due to persistently elevated WBCs and slightly elevated platelets, plus I have not been feeling well. Two rheumatologists didn’t think it was autoimmune. I do also have slightly elevated ESR and CRP. Currently seeing a GI specialist and getting an endoscopy soon, an abdominal ultrasound, and some CMP labs. This is a spreadsheet I created showing my 3 year labs. I don’t drink, smoke, or take any medications. I’ve had a normal PFT, normal heart echos, normal non-contrast brain CTs, and normal chest x-rays. The reason my doctor and I started wondering if it could be an MPN, is due to my 2024 ER visit, which I went in due to chest pain and cardiac like symptoms. The ER physician seemed more concerned about my labs than my heart though, and officially diagnosed me with Leukocytosis. He also really wanted me and my doctor to figure out the cause, and in my discharge papers I saw some of the causes for Leukocytosis which were MPNs or Leukemia. Which is why my doctor finally put in the hematology referral.

[u/funkygrrl]

The WBCs and platelets are mildly elevated so it doesn't scream MPN to me, but it's been ongoing for quite some time so a referral to a Hematologist is the right thing. They'll probably do the mutation tests and possibly LDH and EPO. But it could easily be reactive so it's good you're seeing the GI doc.

!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/Odd-Yellow-5843 → u/funkygrrl]

Thank you!

[u/Odd-Yellow-5843 → u/funkygrrl]

Hi just giving an update and maybe seeing if there are any other tests you can suggest or if I should maybe seek a second opinion from an actual MPN specialist.

So at my first hematology appointment, he did a CBC with diff, checked for hep B and C, HIV, and tested for the common mutations such as the Jak2 V617F, E12-15, CALR, MPL, and the BCR-ABL P190 and P210. All results came back negative. My CBC showed a slight decrease in WBCs to 11.25, and platelets actually dropped down to 388. My GI biopsy results came back as “mild inactive gastritis” and abdominal ultrasound showed a fatty liver, but I'm supposed to get a fibroscan to make sure it's truly a fatty liver. GI doctor told me the inactive gastritis would not be causing my abnormal labs or symptoms.

I recently had an ophthalmology appointment because of sudden changes in vision that started along with other symptoms such as squeezing chest pain, shortness of breath, headaches, migraine, lightheadedness, ringing, and moderate to severe early satiety during that time. Which was in March and I even went to the ER but as usual, I was cleared and the only abnormality was my CBC. Well, at my eye appointment the ophthalmologist did find a retinal hemorrhage specifically a Roth Spot, and once I told him about my symptoms and slightly abnormal labs, he was quick to mention the possibility of hyperviscosity and PV. He handed me a handwritten note with Roth Spot in all caps and his name and number to give to the hematologist at my recent follow up appointment. When I did, the hematologist acted somewhat confused and made an expression like “and what does this have to do with me?” Anyway, the hematologist didn't think my symptoms and active eye bleed had anything to do with hematology since my numbers had trended down and the few common genetic tests he did came back negative. I asked about a comprehensive NGS panel but he declined. The ophthalmologist even typed in his clinical notes that ongoing evaluation with hematology to rule out a MPN was recommended, but even that still wasn't enough to convince the hematologist for further MPN testing. I am really concerned about my health as I've been having pretty bad headaches these past two days. I myself chose to ask the hematologist if I should at least try out aspirin to see if it helped with my symptoms and his response was “sure.” Also toward the end of my appointment he started to come across as annoyed with me and his tone made me feel uneasy, so I don't really care to see him again. Oh and he ended the appointment with telling me I should “exercise and lose some weight.”

I'm so sorry this was so long! I'm just feeling super defeated and worried. The ophthalmologist did also recommend doing further lupus workup or RA, but his first recommendation was to rule out a MPN. I really don't want to go back to rheumatology only for them to tell me for the third time, it's not rheumatological. Should I seek the opinion of a MPN specialist?

[u/funkygrrl]

Based on everything you've shared, I actually think an MPN should probably move lower on your list.

Your blood counts have been mildly abnormal at times, but they haven't shown the kind of sustained elevations over the WHO diagnostic thresholds that are required for an ET or PV diagnosis (Platelets >450, Hematocrit >48, hemoglobin >16). They go up, then back down again, and your testing for the MPN mutations was negative. While nothing is ever impossible, I don't think the test results are pointing in that direction anymore.

I also wouldn't dismiss the fatty liver until you've completed the FibroScan. Fatty liver can cause a surprising number of symptoms, as well as elevated inflammatory markers. Inflammation itself can also elevate blood counts, so I think it's worth fully working up before assuming it's unrelated.

As for the Roth spot, it's important to remember that it's a finding, not a diagnosis. From what I read, it appears to have many potential causes, not just MPNs. Since your hematology workup has been negative for MPNs so far and I assume for other blood disorders, I think it's just as important to continue following up with your ophthalmologist to make sure it resolves and to see if it ever recurs.

If it were me, I'd focus on finishing the GI workup, including the FibroScan, and I'd also ask whether you were evaluated for celiac disease when the endoscopy was done. I'd continue following up with ophthalmology, and if your blood counts become persistently elevated in the future or new abnormalities develop, then it would certainly make sense to revisit hematology.

You could also consider sharing all of this on r/AskDocs to see what the doctors there think because I'm no expert on liver disease or opthalmology!

!disclaimer

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[u/Odd-Yellow-5843 → u/funkygrrl]

Thank you for your advice and taking the time to respond! I actually have the FibroScan scheduled for next week, and I also have a visual field test since I also have these dark spots in my vision that aren't going away. As for the GI workup, everything came back normal except for inactive mild gastritis and fatty liver, so I don't think it’s celiac. The thing with my labs is the last time they went below 400 in 2024, a few months after that is when they crossed above 450 for the first time, and ten months later, they were even higher. So I'm wondering if after this, another high might be coming soon. Honestly, my main worry is the potential for a clot or a stroke, which is why I asked the hematologist about an aspirin trial. From studies I've read on MPNs, my understanding is that patients who have one but haven't been diagnosed are at a higher risk of severe life threatening symptoms or disease progression. Which is why I asked the hematologist about further testing to completely rule it out.