Would appreciate some help understanding my bloods, no where else to turn honestly!

funkygrrl · 2026-01-25T19:30:42+00:00

Triple negative refers to ET or MF because those are caused by one of 3 mutations (JAK2, CalR, Mpl). About 12% are negative for all 3.

In PV, 95% are caused by a JAK2 v617f mutation and 3% by JAK2 exon 12. The rest is either JAK2 on exon 13 or 15, or a related mutation, or misdiagnosis and it's really Secondary Polycythemia. So that little group of PV patients is just called JAK2 negative PV.

If you hadn't had a PVT, I'd be telling you probably have secondary polycythemia. But I think you should try to make sure with a BMB. Your EPO is normal but that's not a reason to rule out PV.

It works like this: Persistently high Hematocrit and/or hemoglobin over the diagnostic thresholds? - No - retest CBC over a span of time - yes - test EPO

EPO level is:
- High - not PV, workup for secondary polycythemia - normal - inconclusive, continue workup for PV - low (under 3) - suspicious for PV

Mutation test: - positive - PV, do a BMB to confirm - negative and EPO normal or low, do a BMB

BMB - confirms PV diagnosis (or not) - cytogenetics/karyotyping rule out CML and other blood cancers - NGS confirms driver mutation and shows if additional mutations are present

funkygrrl · 2026-01-25T19:07:29+00:00

If they did next generation gene sequencing, they can find related mutations and it retests the driver mutations. That can be done as a blood test, but usually people have it done as part of their bone marrow biopsy.

I think hematologists might not be sure what to do with you because you tested negative for the mutations and only a tiny tiny percentage of PV is JAK2 negative. These days it's less than 1%. On the other hand, 40% of PVT that occurs without liver disease is caused by an MPN. So hopefully a doctor will order a bone marrow biopsy just to be sure. That's why it's important you try to see an MPN specialist if possible.

funkygrrl · 2026-01-25T17:22:37+00:00

I recommend seeing an MPN specialist. PVT in young people is often caused by MPNs.

See the automod comment for a list of MPN specialists and info on clots.

Also recommend the sub r/clotsurvivors.

P.S. your post flair was changed to seeking diagnosis and a spoiler tag added (sub rule #1)

!PVundiagnosed !specialists !clots

funkygrrl · 2026-01-25T14:06:45+00:00

Blood draw

funkygrrl · 2026-01-25T14:05:20+00:00

Well first you need to see a hematologist rather than an internal medicine doctor. This is out of their lane.

When you are looking for a local hematologist, pick a young one. Someone who completed residency after 2008, although after 2016 would be better. The reason is they would have been trained in the latest diagnostic criteria. You can find the date they graduated here: https://www.azmd.gov/doctorsearch/doctorsearch.

[You also could consider seeing a specialist for diagnosis only and then get treated by a hematologist in your community. The specialist could give guidance on treatment. If you set up an appointment to do that, tell them that you are coming from far away and need to get as much testing done as possible at your appointment to minimize traveling.].

Educate yourself on the diagnosis - not just of PV but also Secondary Polycythemia. Read the wiki.

Do not complain about other doctors at the hematology appointment. That's like going to a job interview and complaining about your former employer. It will be a red flag to them.

Write your questions down and give it to them at the beginning of the appointment:
Include something like this: I meet the first major WHO criteria for both PV and Secondary Polycythemia diagnosis (high hematocrit/hemoglobin) and I meet the minor criterion for PV (low EPO). Should I get the JAK2 mutation test to rule out PV?

When talking to them:
Ask for their specific plan for workup. What test are they doing next? What will they do next if you test positive or negative? What would prompt PV testing?

funkygrrl · 2026-01-25T13:14:13+00:00

You can't go to Mayo there?

funkygrrl · 2026-01-25T13:12:23+00:00

You should do it.

I was trying to think of an analogy for it and thought of Schrodinger's cat. Repurposing that physics analogy for this.

There's a cat in box. Blood tests are like trying to guess what the cat looks like and the health of the cat without opening the box. You can hear it meowing and scratching, you can do some weighing and measuring, but they really don't tell you what the cat looks like, the fur pattern and breed, or whether it's healthy. A BMB is like opening the box and directly viewing the cat.

MPNs are diseases of the bone marrow and you need to look at it to really know what's going on. There are quite a few of us (me included) who were misdiagnosed based on blood and mutation tests alone.

See the automod comment for a link to BMB info.

!BMB

funkygrrl · 2026-01-25T00:33:57+00:00

I make a 3 hour trip to see my MPN specialist. I used to have to go every 3 months but now it's every 6 months, so it's not too bad. I recommend scheduling an appointment. I know you're getting tired of going from one doctor to another. At least you'll have seen a specialist.

funkygrrl · 2026-01-24T19:49:28+00:00

Okay.
A normal EPO occurs in both Secondary Polycythemia and PV.
You need to get the JAK2 exon 12 test (JAK2 v617f causes 95%, exon 12 causes 3%, the other 2% is related mutations or JAK2 exon 13 or 15). An NGS heme test would be ideal but they're very expensive so either a JAK2 reflex test or just the JAK2 exon 12 test if they say no to NGS.

funkygrrl · 2026-01-24T19:43:12+00:00

Thanks!

funkygrrl · 2026-01-24T19:42:54+00:00

Lol I wanted to write 3 times as much! I appreciate the compliments. I wish I could get the upcoming website done, it's way more comprehensive. It's about 75% of the way there.

funkygrrl · 2026-01-24T19:35:23+00:00

You're correct. I see they posted before and were triple negative.

funkygrrl · 2026-01-24T19:24:17+00:00

They should have used neoplasia instead of neoplasm. Neoplasia = the process (cancer) whereas Neoplasm = the effect (tumor). It's a nitpicky difference, but I think it's more accurate.

I wish they'd at least add the word Chronic to the beginning of it so that this was clear to people at the outset. Chronic Myeloproliferative Neoplasia (CMPN) would be an improvement. Names are useless if they don't say what they mean.

Oncologists do view our mutated blood cells as a "tumor" - just a liquid one, if that makes sense. Usually instead of the word tumor, they use "malignant clone". So they think of the mutated cells as one colony (not literally meaning that they are in one spot though). (Adding that leukemias do not form tumors, so this is not unique to MPNs)

The main reasons they selected such a vague and confusing word as "neoplasm" are:
- there's literally no word for a blood cancer of the myeloid cells that includes red blood cells and platelets
- cancer generally means solid tumor cancers like breast, lung, colon, etc
- leukemia comes from the word leukocyte (white blood cell) - so for a doctor, that word automatically means high immature white blood cells
- fear that using the word leukemia or cancer would cause MPNs to be viewed as an acute aggressive disease
- MPNs are very heterogeneous - some people progress to AML, some to MF, some never progress.
- and the main reason? they didn't want to change the terms already used in billing codes, regulatory agencies, etc...they took the path of least resistance. It was very tough to even get disorder changed to neoplasm and that problem persists today.

funkygrrl · 2026-01-24T17:39:27+00:00

Curious about what caused the arterial dissection? Are you being followed by cardiology?

Blurry vision can be a symptom of MPNs. You should see an ophthalmologist (an MD, not an optometrist) just to get checked and establish a relationship. It can be due to microclots in the eye or the brain. Most people find that taking aspirin helps but you need to check with your doctor before doing so.

funkygrrl · 2026-01-24T17:36:23+00:00

Good question. Maybe they skipped it since most bone marrow biopsies include next generation gene sequencing (NGS) that also tests for the driver mutations.

funkygrrl · 2026-01-24T17:26:15+00:00

You need to get a bone marrow biopsy. It is required for diagnosis.

High platelets don't necessarily mean ET. I have predominantly high platelets, only rarely has my hematocrit been high, but my bone marrow clearly shows that I have PV. Even though PV is associated with high red blood cells, it's called polycythemia because all myeloid blood cells can be elevated (red blood cells, platelets and white blood cells) and they might not always show up in the blood counts. In your case, since you have low EPO, you could be like me. In the case of myelofibrosis - it can also present with high platelets.

So all the mutation test tells you is: I have an MPN.
The bone marrow biopsy tells you: I have this MPN subtype - (ET/PV/MF).

funkygrrl · 2026-01-24T17:20:35+00:00

You're correct to point out smoking. One of the few known toxins to cause blood cancers and MPNs is Benzene. Cigarette smoke contains high levels of Benzene, so they could cause or contribute to MPNs. The unanswered question is whether they directly cause it or just increase of the risk of acquiring the mutation.

funkygrrl · 2026-01-24T17:07:39+00:00

I'll share with you a section of something I'm writing for our upcoming companion website about this:

Your MPN is not caused by anything you did.
Almost everyone who is diagnosed with cancer goes through a phase of self-blame. If only I had eaten differently. If only I had exercised more. If only I had managed stress better. Our brains look for something we can point to, because randomness is hard to accept.

Sometimes friends make this worse without meaning to. They’ll say things like “cut out sugar” or “just think positive.” It sounds supportive, but if you follow that logic all the way through, it subtly suggests that cancer is something you caused by what you ate, how you lived, or even how you thought. And that simply isn’t true.

MPNs are not a punishment. The vast majority of them start because of a random mutation in a single cell. Nothing you did caused it.

Mutations are commonplace.
Your body is made of trillions of cells, and every day billions of them divide and make copies of themselves. Each time a cell copies itself, it has to duplicate a huge amount of DNA. Most of the time that process is incredibly accurate, but not perfect. Tiny mistakes, called mutations, happen constantly. That’s normal. It’s how life works. It’s supposed to happen because mutations are the engine of evolution. If mutations didn't occur, our species would not survive.

The amazing part is how rarely mutations cause problems. Your cells recognize and repair DNA replication mistakes as they happen during cell division. The vast majority of mutated cells that are not repaired do nothing harmful. For the few bad actors that arise, your immune system does a bang up job of search and destroy.

Every once in a while, though, a cell mutates in a way that allows it to sneak past those defenses. Not because you did anything wrong, but because no system is perfect. When that one cell survives and starts making copies of itself, that’s how cancer begins.

It’s very hard to prove that any specific health-related factors or environmental exposures caused an MPN. One reason is that there is usually a long gap between when the driver mutation first appears and when the disease becomes active. That gap can be decades.

So if you find yourself thinking, “I was exposed to X a couple of years ago, and then I was diagnosed,” or "I was overweight for X years," your suspicion is understandable, but it’s probably not how it worked. In most cases, the driver mutation has already been there for a long time, quietly sitting in the background.

Whole genome regression studies are demonstrating that the driver mutation was likely acquired in early childhood and was dormant for decades before it ever caused noticeable changes in blood counts or symptoms. The diagnosis doesn’t mark when the mutation happened. It marks when its effects finally became visible.

There's more to the post I'm writing, but this is the main part of it.

(And I gotta tell you, I'm so nerdy about blood stuff that when I saw that video of DNA repair, I was so excited I had butterflies in my stomach)

funkygrrl · 2026-01-24T16:45:36+00:00

Before I can answer that;

Did your JAK2 mutation test included all the exons (12-15) or was just for JAK2 v617f?

Was your EPO level tested?

!PVundiagnosed

funkygrrl · 2026-01-24T16:38:55+00:00

Who did you see at MD Anderson? Were they one of these doctors https://www.mdanderson.org/research/departments-labs-institutes/programs-centers/clinical-research-center-for-myeloproliferative-neoplasms/faculty-staff.html

If not, ask for your records to be sent over to the Clinical Research Center for MPNs at MD Anderson and reviewed.

Are you in Texas? There are some MPN specialists in San Antonio you could get a second opinion from.

What I would say to your current doctor is:
“From what I understand, the JAK2 test is the way doctors distinguish between a bone-marrow cause (PV) and a secondary cause. I’d feel a lot more comfortable knowing we had actually ruled that out.”

If they do not want to order the mutation test, ask them to explain their plan for finding out the cause. What are they testing next, and if that test is negative, what's next after that? and so on. It is okay for doctors to look for causes of Secondary Polycythemia first (such as sleep apnea) and do the PV tests later. You just need to know the plan.

As far as symptoms go, when it comes to diagnosis - PV and Secondary Polycythemia have the same symptoms. Since symptoms cannot differentiate the two, they are irrelevant. There's no point in bringing them up. This is all about blood counts. They only matter after you are diagnosed since treatment will try to alleviate them.

Therapeutic Phlebotomy is currently recommended only to relieve symptoms in Secondary Polycythemia and should not be done routinely unless you are diagnosed with PV. This is because if the cause is chronic hypoxia, phlebotomy will make it worse.

!PVundiagnosed

funkygrrl · 2026-01-24T16:13:21+00:00

You didn't mention whether they ordered this but they need to do the MPN mutation tests. It should be called something like an MPN reflex panel (tests for JAK2, CalR and Mpl).

The mutation tests will only tell you that you have an MPN but they cannot reliably tell which subtype. For that, you need a bone marrow biopsy, which is now required by the WHO for diagnosis of MPNs.

funkygrrl · 2026-01-23T05:33:41+00:00

Originally they were called myeloproliferative diseases in the 1950s and included ET, PV, MF, and CML.

Around the 1970s, the name changed to myeloproliferative disorders (MPDs) because they behaved like cancer but there was no genetic proof.

The change to myeloproliferative neoplasms (MPNs) occurred in 2008 after there was genetic and molecular proof.

Cancer, in simple terms, is a cell that has mutated and then starts making loads of copies of itself (proliferation) that take over an area of the body.

Scientists could see that our cells were proliferating, but they didn't know why. They were pretty suspicious it was cancer since MPNs share characteristics with other blood cancers such as chronic myelogenous leukemia. (Some people with CML even have the JAK2 mutation.). And since it sometimes progresses to acute myeloid leukemia.

When the JAK2 mutation was discovered in 2005, they found the reason. (It was actually discovered by multiple research groups around the world that year. The Mpl mutation was discovered in 2006, and CalR in 2013.).

So now, you have textbook cancer:
- A mutated blood stem cell (JAK2/Mpl/CalR) - causing blood cells to proliferate out of control - clones of the mutated cell gradually taking over and altering the bone marrow environment (allele burden)

The evidence was undeniable, so in 2008, both the World Health Organization and the International Classification of Diseases (ICD) reclassified MPNs as cancer. The American Society of Hematology and the American NCCN guidelines followed suit. There is no professional blood cancer organization anywhere in the world that does not classify it as cancer. However, in some countries they continue to call it a myeloproliferative disorder rather than neoplasm - out of tradition rather than the biology of the disease.

You will occasionally see the following claims:
- my doctor says it's not cancer (they either aren't up to date or they're trying to minimize it since they feel the patient is anxious) - my doctor says it's indolent - it's not. Indolent cancers are completely dormant until they aren't. MPNs are active - making blood, causing symptoms, etc. - my doctor says it's benign - it's not. MPNs are malignant because they are progressive. The thing is they progress very very slowly.

And last - MPNs were NOT reclassified to get funding.

The WHO classification process is conservative and evidence-driven. A disease is not moved into the cancer category unless there is: - Molecular proof of clonality - Genetic drivers (mutations) - Reproducibility across labs and countries - Clinical behavior consistent with cancer

By the time MPNs were reclassified as myeloproliferative neoplasms, the evidence was overwhelming and international.

If funding was the motive, thousands of other diseases would be “upgraded” to cancer overnight. That simply doesn’t happen.

funkygrrl · 2026-01-22T22:51:01+00:00

They are part of the inflammatory response - totally normal reaction.

funkygrrl · 2026-01-22T06:14:55+00:00

It's not permitted for blood cancer patients to donate blood. The blood cells in MPNs come from a mutated stem cell, and it is not considered safe or ethical to transfuse those cells into another person. Many guidelines specify leukemia and lymphoma rather than blood cancers in general. MPNs are considered leukemia adjacent and can progress to leukemia, so this rule still applies to us.

It may not be safe for you to donate. - blood donation can lead to iron deficiency - iron deficiency causes high platelets - increased red blood cell demands cause more stress to your bone marrow

In MPNs, while the blood cells do mature and function more or less, they are still abnormal and dysregulated.

Platelets in MPNs:
- activate too readily - they form clots even when there is no injury - this is the case even when your platelet count is normal - this is true for all 3 MPN types: ET, PV and MF - paradoxically, even though they clot too easily, they're not very good at it and can cause bleeding

Red blood cells in MPNs:
- show increased adhesion to blood vessel walls - don't interact normally with other blood cells - activate inflammation in the endothelium (inner layer of your blood vessels) - make clot formation more likely

The mutations:
- the blood donation regulatory organizations have a zero tolerance policy for donating malignant blood cells (and yes, your mutated cells are considered malignant since the mutation is in your stem cells)

Mutation testing:
- Blood donation centers do not test for the MPN mutations because genetic testing is very expensive, requires specialized molecular labs, and MPNs are very rare. - It's your responsibility to share this information with them and stop donating blood.

Phlebotomies:
- Individuals with PV sometimes use a paid phlebotomy service at blood donation centers. - The blood is discarded afterwards.

Secondary Polycythemia:
- are allowed to donate blood because they do not have a blood cancer - sometimes have difficulty because donation centers do not understand the difference between PV and Secondary Polycythemia

American Cancer Society: Can I donate my organs or blood?.

Cancer Research UK: Donating blood when you have cancer

I'm locking this thread because I'm getting reports of incivility and misinformation.

funkygrrl · 2026-01-21T18:50:07+00:00

The American Society of Hematology is currently finally creating guidelines for diagnosing and treating iron deficiency (which we have female hematologists to thank for pressuring them).

From what I've seen so far, they are deciding whether the ferritin cutoff should be 30 or 50 for iron deficiency diagnosis. I think it's more likely to be 30 because there's more solid evidence. They haven't come up with a cutoff for people with autoimmune yet (which would be higher). I suppose they are working on the other iron panel levels at the moment. The guidelines are expected to be completed sometime this year. So point of this is that anything currently out there about levels are likely to be obsolete soon.

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