Unexplained Polycythemia

[Confusedatpolycythem]

Hi there, I was just diagnosed with unexplained secondary polycythemia, I am negative for the JAK2 mutation but they haven't tested for Exon 12 yet. It seems they've done every test under the sun and cannot determine the cause of my polycythemia. It makes me wonder if I actually do have primary. I'm getting so frustrated and feel so alone.

[Applesnpears]

Sleep apnea?

[Confusedatpolycythem in reply to Applesnpears]

No.

[Ebot]

Hi there. I can imagine your frustration and anxiety at not being given a clear diagnosis as to the cause of your likely PV. But if there is a silver lining, it sounds like you are being well cared for and thoroughly investigated. I do hope you get a definitive diagnosis very soon. Meanwhile hang on in there. Wishing you well.

[Dolman]

How high is your rbc and have you had a bmb . I’m in a similar situation as you and so frustrating

[Confusedatpolycythem in reply to Dolman]

My RBC is 5.66, HGB, 17.9, HCT 51.8 and WBC 13.1. I have normal EPO levels and no hypoxia. I am a non-smoker and I tested negative for sleep apnea. I think my Dr. is great, but I think he is ruling out PV too eary and diagnosing with secondary polycythemia - with my numbers it just doesn't add up to me.

[Dolman in reply to Confusedatpolycythem]

Hi , somebody might correct me if I am wrong but your numbers don’t look overly high . I know they are outside the max numbers to be referred but not as high as mine and I’ve not had any blood drawing yet which makes me question things . I’m the same and had that many tests including bmb and still they haven’t found anything .All we can do is keep pestering and hopefully something will be found. As Aimee says they might come up with a new mutation in the future and we might get some answers as it’s worrying thinking what it is .

[Confusedatpolycythem in reply to Dolman]

Hey Dolman, I hope your doing well, and I'm hoping you get answers soon. I've updated everyone below on where my status is right now. Not sure if you know this, but a HGB of 17.9 is dangerously high when normal range for women is 5.5 grams per deciliter. Thankfully with phlebotomy the only thing out of range right now are my platelets.

[Aime]

Hi , I've been through a similar journey to you and after getting a second opinion I've been rediagnosed with idiopathic erythrocytosis, being negative to jak2 and xeon gene mutations. I still have too many red blood cells in proportion to plasma.

My treatment so far remains the same: bloods checked every 8 weeks and venesection when hematocrit reaches .45. Unfortunately the symptoms dont change either. I personally believe they will discover another mutation which is causing our high red blood cell count.

I find that theres no point worrying about what may never be. Above all it wastes precious energy. Try and tackle one step at a time on your journey

If you want to search "my Mpn Journey." It was a poem I wrote which explains how I was feeling and lots of people have been able to identify with it

In the meantime you have come to this forum. You are not alone now, you are surrounded by strangers who are now your friends who will willingly give up time to help and support you! Keep in touch and let us know how you're getting on. As Ebot says medically you are getting checked out.

Take care, E hugs and kindest regards Aime xx😻😻

[Confusedatpolycythem in reply to Aime]

Thank you so much! I updated Applesnpears below on the tests I've been through and I just put in a request to my doctor asking if they could test for exon 12 mutation.

[Applesnpears]

Me again.

The article below gives a long list of conditions that can cause secondary polycythaemia. Hopefully most can be ruled out based on the results of the tests that have already been done but there might be something that has been overlooked.

healthline.com/health/secon...

[Confusedatpolycythem in reply to Applesnpears]

Thanks so much - yes, I've had chest x-rays, a breathing test, home sleep study test, CT scan, colonoscopy, ultrasound, pelvic exam, arterial gases measured, mamogram, and a complete CBC. I am a non-smoker and show no hypoxia. I sent a message just now to my doctor asking if they would consider testing for the exon 12 mutation. I appreciate you taking the time to respond to me, it's nice to know I'm not alone.

[Applesnpears]

Sounds like you have been through a lot.

Have you seen these guidelines on the diagnosis of PV?

onlinelibrary.wiley.com/doi...

At 51.8 your HCT is marginal but apart from that the flow chart suggests resting for the exon 12 mutation. Certainly worth a discussion with your haematologist.

[Steve360]

Similar situation with me too, still on going - it seems unexplained secondary polycythemia is not as uncommon as I first thought, can certainly relate to the frustration and anxiety related to the 'not knowing'. My tests so far have not been as exhaustive as yours however - where are you based?

From my understanding, it seems unlikely that you have primary given the negative JAK mutation and normal EPO but sounds like a sensible path to suggest the exon 12 test.

[Confusedatpolycythem in reply to Steve360]

Hi Steve, I agree with everything you said, but from what I've been reading, a high EPO level is associated with secondary polycythemia and mine is not even close to high. I live in Fargo, ND and I don't even have another appointment with my Oncologist until July! As I said, I emailed him and asked if we could test for the exon 12 mutation. I'd like to ask for a referral to the Mayo Clinic in Rochester, as they are experts and maybe have a better chance of diagnosing me. Please keep me updated on your testing, I'm hoping for the best for you, and for me, lol.

[Steve360 in reply to Confusedatpolycythem]

That would certainly make sense to me too, I guess this is where it becomes tricky as a normal EPO level combined with a negative JAK test suggests secondary, but that doesn't totally fit either!

My EPO test also came back completely normal also and so far they are attributing my polycythemia to an underdeveloped kidney, but I am a little skeptical - as that flies in the face of the normal EPO reading. Who knew getting a routine blood test could result in all this!

Do you know how long your pattern of high RBC has been going on for? When looking at my test results my high levels had been previously been going on for 3 years prior but had plateaued and remained quite stable (but high). Usually with primary polycythemia RBC/HCT continues to rise regardless and from reading lots of sources my understanding is that patients usually present with much higher numbers than yours (and mine).

I hope you're successful in getting the exon 12 mutation test, that seems like the next logical step for your diagnostic path. Best Wishes and likewise, do let us know how you get on

[Confusedatpolycythem in reply to Steve360]

Hi Steve - my RBC's have been high since January of 2018. Regarding the EPO - from what I've been reading it can be low to normal for PV and is high for secondary polycythemia, that's what's confusing to me since mine is normal. I'll update you next week when I hear something more.

[Lena70]

Hello. I understand. From beginning to end, it took many months before my diagnosis. I hope you have an answer soon.

I'm also in the states. Been through Fargo a few times on Amtrak.

[Sarahserena81]

I am with you hon. Just curious what is the level of your epo? I am JAK2 negative and I am 38. My epo is 8. I have my next apt on March 9th. I just want this over so I can get on with my life. Hugs and love hon

[Confusedatpolycythem in reply to Sarahserena81]

Hey Sarah, mine was 7. I start venesection tomorrow, twice a week for the next 3 weeks as my doctor would like to get my hematocrit down from 52 to 40 before I fly to Hawaii on vacation. I am waiting for a call today from the hospital to schedule my bone marrow biopsy. My doctor is going to send the information to Mayo Clinic in Rochester to test for the exon 12 mutation. I understand because the waiting and all the testing is so worrisome and frustrating. Hang in there, I am here for you if you need me! I am really scared about the BMB though.

[Debbweb01 in reply to Confusedatpolycythem]

Wow I’m confused! I diagnosed myself about 17 years ago! Went and plain just asked! I also had hi white counts , he said not cuz of PV! DK if that’s true! Don’t know what Econ 12 is or epo? I had bone marrow test cuz white count alway 18-21! No Leukemia, but I got a blood clot in my heart, arterial! It had nothing to do with PV! I have another rare blood clotting disorder cald Antiphospho Lipid Antibody Syndrome! After being under care of Hemotologist in NY, for 15 years & being phlebotomists all the time, He diagnosed me 10 months after loosing my leg! The USA is really out of touch! Since my leg loss and Lovenox shots everyday, I havobeen Phlebotimized in 5 years! I think it’s odd! I think ur Hematocrit is hi! There are may other things that cause PV! I’m unsure y, I do have sleep apnea but no JAK2 ! Never was told about Econ 12! I’d love to hear how ur getting on! It’s a strange disease! God Bless You and I pray u get ur answers!

[Sarahserena81]

Thank you so very much hon. This whole thing has been crazy. I am glad you are getting away from thinking and life. Enjoy your vacation honey!

[Confusedatpolycythem]

Update: I had my BMB and the results show no sign of MPN's. The BMB was not fun, but not as bad as I thought it would be. Phlebotomy has been working and lowering all of my blood counts so right now my WBC and RBC are normal but my platelet count is 387 which I think is weird. Debby, the Exon 12 is just another gene mutation that about 3% of people with PV have. 90% of people with PV have the JAK2 gene mutation. I don't have either mutation so right now I'm diagnosed with ideopathic (unexplained polycythemia). Erythropoietin (EPO) is a hormone produced by the kidneys that promotes the formation of red blood cells by the bone marrow. EPO tells your bone marrow to make blood cells. People who have polycythemia vera have very low levels of it. I leave for Hawaii in 2 days and my next appointment with my oncologist is on March 23rd and he'll do a CBC and check my EPO level again, but he's also putting in a referral for me to the Mayo Clinic in Rochester, MN because I don't fit the WHO definition of PV, and he cannot find a secondary cause.

I'm so sorry about your leg Debby, that must have been so hard to go through. Have you thought about going to Mayo? I hope you are doing ok and I will check back in with you guys when I get back from vaca. <3

Cindy

[Steve360 in reply to Confusedatpolycythem]

Thanks for the update Cindy, hope you're recovering well from the BMB. Hopefully the venesections went well, they're not the most pleasant of experiences!

[Debbweb01 in reply to Confusedatpolycythem]

Hi Cindy how was ur trip

[Jaygeee in reply to Confusedatpolycythem]

I have the same high blood values and normal EPO and the Hematologist told me it was from a large Uterine Fibroid. I read it’s very rare so I am going for a second opinion. I am Jak 2 negative.

[Rosienew922]

Hi, it's so nice to hear that someone else is in a similar situation to me!I'm a 29 year old woman, I was diagnosed with idiopathic polycythemia when I was 18, when first discovered my hematorcrit was 0.8.

I tested negative for the jak2 gene, I've had a lot of the same tests you spoke about including BMB all with normal results.

I think I have had this since birth, I started suffering with severe migraines aged 11, but had the symptoms of redness on my skin from a very young age.

Excluding the first few years after diagnosis I have not received anymore tests, I have regular venesections, but I basically feel I have been put on the shelf as they don't know any more..surely research has moved on in the last 10 years!?

Abnormal blood vessels have also been identified in my eyes - which are most likely due to polycythemia - and have the potential to impact my eyesight.

I'm 100% sure the two must be linked, but nothing has been found yet.

I'm also pregnant, which is largely an unknown so fingers crossed nothing goes wrong!

I really hope some progress is made for people like us soon!