ONCOL DR THINKS I HAVE PV

[BmoreAnne]

HI I'm 32 yo & on Aug 3rd blood results for HGB were 17.0 gram (high) HCT 52.4 percent (high) and RBC 54.2 % also high for me being female. I also have blood clot in left leg so my dr.suspects me for PV. I've been waiting 6 days now for Jak2 mutation test to come back. I've been anxious since so many possible health problems are hitting me all at once. I was told it's rare for someone my age not being pregnant or overweight to have a clot & Possible PV.my medical chart says I was diagnosed with Secondary Polycythemia. Is there really a difference between secondary Poly and actual PV?

[friendofpiglet]

There is certainly a difference between secondary polycythaemia and PV.

PV is almost always an acquired genetic mutation, in 95% of cases JAK2 - your test result may confirm PV.

From your stated blood counts, I'm surprised you don't mention having had venesections advised.

I've been living with PV for 8 years and have what, up until recently, have been occasional venesections, but at my last blood tests, my levels went up to where yours are and I am having venesections every 2 weeks to bring them down. (not exactly fun, but no real big deal)

I hope you get your answer regarding the JAK2 test soon.

[BmoreAnne in reply to friendofpiglet]

Thanks for your reply, I've never heard of a venesection until just now, my Dr hasn't really explained much of anything to me yet, she said she wants to await my JAK2 and CALR results to come back before she sits me down to talk about anything in detail.

[hunter5582]

You are on the young side to be diagnosed with a MPN, but it does happen. I was in my mid 30s when I was diagnosed with ET. About 23 years later it progressed to PV, that was 8 years ago. Now aged 67, I am doing well having managed the MPN for 30+ years.

There is very definitely a big difference between Secondary Polycythemia and Polycythemia Vera. You are clearly experiencing erythrocytosis, which means one or the other form of polycythemia is present. Treatment is very different for each form of polycythemia. With Secondary Polycythemia the underlying cause is treated. There are a number of different conditions that can cause Secondary Polycythemia. They mostly center around things that cause hypoxia, which triggers the body to make more RBCs.

webmd.com/a-to-z-guides/wha....

Polycythemia Vera is a condition where the erythrocytosis is caused by a mutation that deregulates that JAK-STAT pathway. The erythrocytosis in this case is primary, not secondary to something else. The JAK2v617f mutation is the most common, found in about 95% of people with PV. There is also a less common JAK2 Exon 12 mutation found in about 3% of people with PV. There is a very small number of people with PV who have the CALR mutation. There is also a small number of people with PV who are triple-negative (no detectable mutations).

Here are the WHO diagnostic criteria for PV

Major WHO criteria are as follows:

Hemoglobin >16.5 g/dL in men and >16 g/dL in women, or hematocrit >49% in men and >48% in women, or red cell mass >25% above mean normal predicted value

Bone marrow biopsy showing hypercellularity for age with trilineage growth (panmyelosis) including prominent erythroid, granulocytic, and megakaryocytic proliferation with pleomorphic, mature megakaryocytes (differences in size)

Presence of JAK2V617F or JAK2 exon 12 mutation

The minor WHO criterion is as follows:

Serum erythropoietin level below the reference range for normal

Note that people with PV can also experience thrombocytosis and leukocytosis, but this varies between individuals. Some present only with erythrocytosis. The other thing to note is that there is more to PV and the symptoms than just the blood cell numbers. The JAK-STAT pathway deregulation also causes the body to make too many inflammatory cytokines. This is thought to be responsible for many of the secondary/constitutional symptoms we experience.

Depending on which JAK2 test they ran, the results can take 1 - 3 weeks to get. A long time when feeling so uncertain about what is going on. No matter what, know that this can be dealt with. If you have PV, know that treatment options have improved in recent years and more options are in development. For someone in their 30s considered higher risk, treatment options like Besremi and Jakafi are a huge improvement over what was available previously.

You will soon have an answer to what is going on. Please do let us know how you get on.

[BmoreAnne in reply to hunter5582]

Thank you thats alot of good info which makes more sense now. My medical chart did also show active for Erythrocytosis and also awaiting CALR test too. I was hoping to get a jump start on more information so I know what to expect going forward so thanks again. I'll provide an update once I get the results back. I'm mostly worried about the 20 yr life expectancy I read about on the internet with treatment but I assume everyone's case Is different depending on each situation.

[Moina-vdh in reply to BmoreAnne]

Hi Anne,The life expectancy looks lower, as most people are much older. It looks scarier than it is. As Hunter said, there are much better treatment options now, and most of us are doing well and keeping PV under control. Try not to worry too much, just wait for the results first.

[hunter5582 in reply to BmoreAnne]

The older studies on life expectancy are based on the older forms of treatment. The figures you will see in more recent literature is that people with PV can expect to live a near-normal lifespan. In fact, there is evidence that with proper treatment people with PV may be able to live a normal lifespan. ashpublications.org/blood/a...

There is research underway into how MPNs manifest in younger people. Here is just one example. "Young MPN patients comprise a unique disease subset defined by an attenuated-risk cytogenetic and mutational backdrop and conspicuously longer survival compared to their older counterparts, which requires assertion during patient counseling."

onlinelibrary.wiley.com/doi...

Your care team has initiated the correct diagnostics in looking for JAK2 and CALR mutations. Given that they checked for CALR, they likely checked for the more rare JAK2 Exon 12 too. Once you have these results back, you can determine your next steps. One of the most critical next steps is to consult with a MPN Specialist rather than a regular hematologist. MPNs are rare disorders. Most doctors, including hematologists, have very little experience with them. If you do have a MPN, optimal care requires expert consultation. Here is a list should you need it.

Worldwide mpnforum.com/list-hem./

USA pvreporter.com/mpn-speciali...

All the best.

[BrookTownsend375 in reply to hunter5582]

Hunter: We know you like a good cup of coffee and we know you like a certain red wine. After all you have contributed to us, we should send you some! I am a female 76, with PV, I tried drinking vodka, two shots would give me pain in the lymph nodes, I will never do this again. Please tell us specifically what kind of sauvignon red wine you drink--I assume never more than one glass a day. Inquiring minds want to know!

[hunter5582 in reply to BrookTownsend375]

Thanks you for your kind words. I get a lot out of participating in this forum. People were very supportive during my own various medical adventures. I am constantly learning more here on the forum. Even when answering questions I learn more. it gets me to find and review information, and to rethink things..

I do love a nice Cabernet Sauvignon or Pinot Grigio, Actually like a number of wines. I prefer wines that are low-acid and low tanic. You are right about limited consumption these days. Being on Besremi means I have to be especially kind to my liver.

I do indeed love my coffee. I have a local coffee roaster in Charles Town, WV who makes wonderful coffees. Sadly, I am limited to one cup of caffeinated coffee/day. Happily, Sibling Coffee Roasters makes wonderful decaf.

I really do believe that we should find things to enjoy, ways to have fun, each and every day. I am a committed foodie and enjoy a wide range of foods and beverages. Perhaps we will be able to meet at one of the MPN conferences someday. I have attended several that we quite informative. I would love the chance to meet my friends from this forum live. I had some nice meals with friends at the last conference I attended.

All the best my friend.

[EPguy]

If your Dr said secondary polycythemia, absent Jak2 or marrow biopsy results, it suggests there is a disease or condition that Dr attributes to it.

This reference has some simple descriptions, not as informative as what Hunter provides here but might be helpful:

verywellhealth.com/secondar...

<<Secondary polycythemia is associated with an underlying disease process, but primary polycythemia is not. >>

<<Primary polycythemia (The MPN version) is caused by an abnormality of the cells in the bone marrow that form red blood cells. Secondary polycythemia is caused by a disorder originating outside of the bone marrow that causes overstimulation of the normal bone marrow, leading to an overproduction of red blood cells. >>

It lists some of the possible causes of 2ndary polycy.

Either way your Dr should be discussing near term ways to reduce your HCT from that high level.

[Scaredy_cat]

Are you just with the gp or have you been referred to a haematologist?

[BmoreAnne in reply to Scaredy_cat]

I was referred to a hematologist back in June. She specializes in Oncology.

[KLCTJC]

I am a female too. I was diagnosed at 38. I didn’t have a clot, but a lot of weird symptoms that were very scary and my labs were worse than yours when I got diagnosed. Unless you smoke, have sleep apnea or something similar unlikely it is secondary. Would likely be primary. Stinks they didn’t find it before the clot, but when we are young lots of signs can be written off as minor things. I had symptoms over a year before I figured it out. ER doc sent me home telling me it was either migraines or MS! Despite my labs being crazy and close stroke like symptoms. Luckily me and my husband are PAs and we reviewed the labs and I diagnosed myself. And being in the medical community got treatment quickly. I would tell you if it is and it sounds like it, seek out a MPN specialist. And you will need immediate treatment other than just phlebotomy and aspirin. Ask about Besremi. And asks folks on this site about it. I am about to start it. Fingers crossed in the next few weeks and I will keep you posted. I don’t know where you live but MD Anderson has amazing specialist even if you only go once. I go there and to a local oncologist. It will be ok, just need to get started on treatment. Will add you to my prayers.

[BmoreAnne in reply to KLCTJC]

Hi and thanks for the response. I did smoke for many yrs and recently quit a few months ago. I've also had migraines the past cpl yrs, along with bloated stomach and feeling full soon after I eat, easily bruise or bleed nonstop from small cut, tingling sensation in some limbs, I read these are some MPN symptoms but brushed them off for the past year or so. That's cool that you and your hubby are Dr's yourselves to be able to diagnose certain things. My Primary care Dr didn't find the clot until I asked for an ultrasound as I was having pain and swelling in my left leg. I reside in Maryland so if JAK2 or CALR come back positive I'll definitely look into MPN specialist. Thanks again.

[KLCTJC in reply to BmoreAnne]

You are so welcome. I had ocular migraines with extreme dizziness, blood shot eyes, rosacea like break outs. All things that could be brushed off. So, I get it. Hopefully once it is definitely either way you will be able to start treatment and move forward.

[Leighcox85]

Hiya Hunni iam so sorry you are having to go through this it’s never easy but you will find so many people on here that can help and offer great advice I have mylefibrosis I was diagnosed at 24 after I developed blood clots I remember being really scared after going on google and reading a 5 year prognosis iam 37 now I have had it for nearly 13 years medication has come along way and options are getting better all the time I wish you the best of luck and hope you get some answers soon best wishes leighanne

[MichaelS]

Hello, please ignore some of the internet about longevity if you have a MPN. I was diagnosed with PVR when I was 37 in 1983. I am soon to be 76, and had a total hip replacement earlier this year and now walking without a stick most of the time. So I am still alive and kicking, sort of.I wish you well and enjoy life as much as you can.

[Elizajoe102]

You're amazing and an inspiration. 🌟🤗👍

[Notdiagnosed]

And years ago mpns were not diagnosed until after 60 odd as there were not so many tests for it so life expectancy of 20 odd would be near normal.