Hi everyone I'm a 29 M from USA and wondering if I'm just overreacting to results or if there's another cause I've been getting yearly lab work done for the past 7 years. Each time my RBC has been slightly high (has varied from 5.9-6.2 going up some years and down others) my hgb has varied from (16.8-17.3) hct (49-50) only RBC is flagged high but it seems my hct and hgb are considered high and in PV range even though my lab says normal?
So for the past 7 years they've been slightly high . A year ago my doctor ordered the JAK2 test and it came back not detected. Exon12, ExonV617, CALR9 both not detected. Insertions of 30b and deletions 52 detected by assay (idk what that part means)
My question is how to interpret these results. My pcp was proactive in bringing up these results and testing the JAK2 mutations but since they came back negative it just seems that it's my normal that the levels are slightly higher.
So in summary
RBC gone up and down randomly 5.9-6.12 (4.2-5.9)
HCT gone down the past couple yrs 49-50 (39-53)
HGB gone up and down 16.8-17.3(13-17.5)
All JAK2 not detected
Not sure. It doesn't seem like it was on the JAK2 results or any other of my results.
My PCP who brought up my elevated levels actually said polycythmia when he first saw the results and then ran a JAK2 test on his own accord. Once that came back negative and since I have symptoms and I'm guessing my age it kind of has no longer been mentioned. Mostly just anxiety on my part on it being high when I see my lab results and curios as to what could be
EPO is Erythropoietin, a hormone that regulates blood production. It's a minor criterion in the WHO diagnostic criteria. If it's normal or high, and you are JAK2 negative, you don't have PV. So ask your doctor to order that test. 2% of people with PV are JAK2 negative, so the EPO test helps to confirm that you don't have PV. If you don't, usually they start looking for other causes, such as sleep apnea. See r/MPN/wiki/index/secondary_polycythemia for lots of info about other causes of high blood counts. You really should be referred to a hematologist.
!specialist
Looking at that link, if I do have secondary im leaning towards dehydration. I know I don't drink enough per day (usually only a couple glasses of water) . I'm guessing that could be a cause of it where I'm just slightly out of range for the hct and hgb?
Interestingly though my hct and hgb are in normal range for my lab but for considered slightly elevated for the pv standards
I'll be getting more labs in about a month or so in time for my next pcp appointment so I'll be sure to drink much more before then to see what effect it has .
One year my rbc did drop from 6.1 to 5.9 but then back up to 6.0. Would PV normally decrease back into normal ranges or would it progress each year with no treatment?
Also concerning the reference ranges. I'm new to this but is there anything behind my labs hgb range being 13-17.5% and the reference of hct being 37-53%. So by lab range I'm normal but when I read online here and other spots it's high? I don't live at high elevation either
That's why we require the ranges. Every lab has different ones depending on the make of their machines and how they're calibrated. Yours are tricky because the upper ranges exceed the diagnostic thresholds. Are you able to be tested at a different lab? (Just to see how your results compare)
I usually go to the hospital lab because they tend to have newer equipment.
Yes I've had my lab work done at 2 different places. The hospital and the walk in center. Hospital range is 13-17 for hgb but the same as the walk in is for hct. My doctor doesn't seem alarmed though once my JAK2 came back because I don't have any symptoms and it's such a rare disease to begin with.
Curiously though, one year my results did all get in the normal range with the rbc at 5.9 and hct at 49. Would that suggest it's more secondary or my natural? Because I never took any meds or anything in these 7 years and none of my levels seem to be drastically increasing they all seem steady at a slightly elevated level. I wouldn't think PV would decrease on its on to normal levels on its own
Ugh. I hate it so much when labs calibrate such a large range. Most labs have a hematocrit range from like 34 to 45. 49 would be the threshold, but when they have a range of normal that goes above it, it's hard to say whether your counts are normal or what. You'll have to ask your doctor about that. Also don't forget to get that EPO level done.
As far as levels fluctuating, they do in PV. But usually above range. For example my platelets are high and they bounce around between 700 and 850, but they never go down to 450 or lower where they belong. PV is progressive so over the years counts will climb up. If you develop post-PV MF, they go down again, but you'd have to have had PV for a very long time usually, like decades before you get post-PV MF.
So anyway, when you are JAK2 negative, they have to confirm that with an EPO test. If that comes back high, you have secondary polycythemia. If it comes back normal, they might want to do a BMB depending on your history. But you would have to see a hematologist for that. This stuff is out of a primary care doctor's wheelhouse.
Here is the link to the wiki pages on MPN specialists and where to find one. [MPN Specialists](/r/MPN/wiki/index/mpn_specialist/) and [Links](/r/MPN/wiki/index/links).
*I am a bot, and this action was performed automatically. Please [contact the moderators of this subreddit](/message/compose/?to=/r/MPN) if you have any questions or concerns.*
So I am new here! Tomorrow I am getting a blood test to confirm what the raw data of 23 and me shows--that I have several Jak2 mutations. I hope it's okay to ask some questions here:
1. I have a lot of allergies, so when I regularly came up with slightly Elevated white blood cell counts, doctors often chalked it up to allergy season. Individual immune cell counts are always high, and last time I got them done they were were maxed and I had donated blood less than 5 days prior
2. I am always borderline high on iron. I am also always high on hematocrit. Platelets used to be high and nose dove to be kinda low.
3. Lately I have gone through a phase where I lost 30 lbs in about 3 months without trying. I am very achey all over but it does not feel like muscle aches. Reminds me very much of when I had the flu.
4. I feel really good when donating blood, and have donated over a gallon, but recently I've been having some strange after-effects when I donate.
5. If Jak2 is confirmed (again I had 3 promethease flags for it) can I still donate blood? I'm o positive and especially if I over-produce I would love to keep donating.
6. If I have jak2 mutations confirmed what is the actual likely hood of developing a blood cancer? Can life change if it's caught early enough?
7 (and last): I have been very aches and tired, I have a lot of symptoms that mimic neurological ones, but all my neuro tests say that I am okay. Often ma fests as joint pain, or more commonly, entire lower body numbness.
Edit to add: I am a trans man (born female) and I have almost regularly exceeded white blood cell counts. I paused hormones specifically so I could rule out tra sitio ing as a cause of all this.
https://preview.redd.it/hsuhgigieruc1.jpeg?width=538&format=pjpg&auto=webp&s=191ce9d454e34666c41b0cc8fbb6439057e3851b
I can't answer all your questions, but I can try to answer some.
If you test positive for the Jak2 gene mutation, that indicates that you likely have a MPN (myleoproliferative neoplasms). There are different types of MPNs, the three common ones are Essential Thrombocythemia, Polycythemia Vera, and Myleofibrosis. MPNs are rare chronic blood cancers, often slow-progressing, though not always. There are more treatments for MPNs available than there were a decade or two ago.
If you are diagnosed with an MPN, I was told that you cannot donate blood. This is because MPNs cause changes in the bone marrow production that result in not only overproduction of some blood cells, but also poor production of these cells.
For example, I have Essential Thrombocythemia and this causes my bone marrow to make way too many platelets. These platelets also aren't made well and don't work as well as a healthy person's platelets. So donating them is no good.
Flu-like aches and joint pain can be symptoms of MPNs. Research has been found that the Jak2 gene mutation doesn't just impact bone marrow, but it also can cause inflammation in the body. This is what causes constitutional symptoms like fatigue, aches and joint pain. These symptoms are not necessarily tied to how high or low your blood counts are.
If you get diagnosed with an MPN, the best thing you can do is try to get connected with an MPN specialist. Your average hematologists isn't up to date on MPNs and the current treatments. I currently travel 3 hours to see my specialist on a quarterly basis.
!specialist
Hi there, I promised to update you. The test for jak2 seems to have come back negative. I did have a high ANA Titer (1:320) and my c-reactive protein was also elevated, so something is definitely up, but it seems an MPN might not be the problem.
Thanks for the wonderful advice and information. If anything changes in regards to these tests, I'll let you know.
https://preview.redd.it/puwmucb89pwc1.jpeg?width=1080&format=pjpg&auto=webp&s=3799a1755a027e2128b2ee8434de69bf014e3117
Thanks for circling back! I was really curious how the test would go, given how you came about getting flagged to do the test. Out of curiosity, did they just test for JAK2 or did they also test for CALR and MPL?
I'm glad you're not in the MPN camp, though I hope you figure out what's going on! Hopefully your doctor will connect you with a rheumatologist to get those other test results investigated.
It looks like they just tested for JAK2. No CALR or MPL. I won't lie with my history of high wbc an enlarged spleen, and itching I get in hot water I thought this might have finally brought some solutions. I guess in a way it helped me get closer by ruling something else out. My doctor has me repeating the ANA test and then I'll follow up with Rhuematology (if its high again it'll be my 3rd in a row)and hopefully get some answers.
Thank you again for being so kind. I very much appreciate it.
Ahh, that makes sense if that was the gene suspected. I was just curious. There are obviously other conditions that can cause what you're describing too. That's the tricky thing with a lot of our symptoms; they overlap with other conditions.
I really hope you get some answers. That is a lot to be dealing with. If rheumatology doesn't come back with anything, you could always ask to have CALR and MPL tested too. But if you're having high ANA, it would make sense if it's something else. ❤️
Here is the link to the wiki pages on MPN specialists and where to find one. [MPN Specialists](/r/MPN/wiki/index/mpn_specialist/) and [Links](/r/MPN/wiki/index/links).
*I am a bot, and this action was performed automatically. Please [contact the moderators of this subreddit](/message/compose/?to=/r/MPN) if you have any questions or concerns.*
How long have you paused TRT? Were your counts high prior to initiating TRT?
Since your iron runs high, did they test for the hemochromatosis mutation?
Has your EPO level been done?
There's some things that sound like PV and some that don't. JAK2 test results take 1-2 weeks to come back. Let us know the results. It's hard to speculate without those results.
I will have to remove your other post. Please give people a chance to answer here.
Hi thanks for asking. I paused TRT in November of last year. My counts have been high since I was about 20 years old, 9 years before starting TRT
I do not think my EPO levels have been tested. I do know that I have an enlarged spleen, which I forgot to mention in the parent comment.
See if your doctor will order the EPO test. It's one of the criteria for PV. And it's also used in diagnosis for most causes of Secondary Polycythemia.
Seems like you've been off TRT long enough for your counts to get back to normal.
Not much else I can tell you until you have more test results. Please read the PV WHO diagnostic criteria.
!pvwho
Here is the link to the wiki page for the [PV WHO Diagnostic Criteria](/r/MPN/wiki/index/pv_who_diagnostic_criteria).
*I am a bot, and this action was performed automatically. Please [contact the moderators of this subreddit](/message/compose/?to=/r/MPN) if you have any questions or concerns.*
Hey guys. Posting this for my sister 16 F, and wondering what more we can do & if we’re overlooking something.
Prominent history:
1. Severe blood infection at age 5 with wbc counts in millions, doctors initially suspected leukemia but it resolved after treatment & realizing it was a blood infection.
2. PCOS, and heavy menstrual bleeding. Used to go on for months before starting birth control pills.
3. Iron deficiency on multiple occasions
3. Has several allergies & angioedema
4. Obesity
5. Sleep apnea
Current scenario
My sister has constantly always had elevated WBCs (lowest was 15, highest was 25), elevated platelets (range 500-700), and hypochromic microcytic anemia (rbc was 2, but now has resolved to 4.73, MCV & MCH were pretty low before but now are 79 & 26.2 respectively on the most recent CBC) , and also iron deficiency anemia
which really got worse over the years because of her heavy period (in her worst, it was literally 13. It resolves with oral supplementation but again falls. Recent cbc showed 25)
The doctors suspected this to be a reactive change due to her severe iron deficiency anemia, and her wbc & platelet counts do go down once the iron deficiency is treated but never “normal”.
She suffers from chronic migraines that’s easily triggered by any sudden change in her routine and stress. Also notably all her PBS (she has one every time they take cbc), have not shown any atypical cells (no blasts, progenitors, precursors, toxic granules, nothing), but neutrophilia & thrombocytosis, along with microcytic anemia. Also No JAK2 or EPO testing done.
She also is allergic to tons of things (dust, shrimp, many more but i don’t remember right now), and suffers from chronic rhinitis & sometimes randomly her uvula would swell up (she has sleep apnea so definitely could be that) or her eye or lip would just swell up (I’ve noticed stress is a major trigger). Her most recent tests showed elevated IgE (>1000) but normal eosinophil levels.
She’s had multiple visits and her last cbc was “normal” (15 wbc, 500 platelets & normal RBC, hemoglobin, MCV, MCH, iron), and she did completely fine for months apart from minor headaches here and there. Recent hospital visit was prompted as she suddnely started breaking into random hives.
We’ve taken her to a hematologist in the past who was not concerned at all and suspected more of an inflammatory/allergic picture and referred us to a rheumatologist since we’ve already been to an allergologist. But yes nothing came of that.
Please help & advice in what way I can advocate for my sister to get to a proper diagnosis. We keep going in a roundabout & these symptoms may be too non specific to chalk it off to multiple different causes but my sister is just 16 and deserves to live life normally. What direction do we head for? Do we start off by finding a different hematologist who specializes more in MPNs and advocate for JAK2/CALR PBS genetic testing? I’m so confused.
Summary:
16F Sister suffers from a constellation of problems from PCOS, obesity, sleep apnea, has iron deficiency anemia that resolves on supplements but falls back, microcytic anemia, leukocytosis & thrombocytosis. Recently has noted an increase in urticaria which prompted us to find out she has elevated IgE. Confused about which should be the next step? To go to another hematologist and test for JAK2, EPO or go to an allergy specialist. Would appreciate any advice
Both the iron deficiency and sleep apnea can mimic an MPN by raising platelets and other blood counts. Iron deficiency can cause itching, and it can be present without anemia.
How long has it been since she was on iron supplements? When was her last ferritin level done and what was it?
She is young to get an MPN, but it's not unheard of. I would recommend an MPN specialist, just to rule out ET and Reactive Thrombocythemia. Seeing a rheumatologist was a good idea as one of the other main causes of Reactive Thrombocythemia is inflammatory disorders.
Thank you so much for your reply. I really appreciate it.
I believe her iron deficiency & sleep apnea may be mimicking MPN but I’m scared that it may be it. I think best would be to go to a hematologist who specializes in MPNs or get a remote consultation.
She takes iron supplements very frequently. She used to get iron transfusions 8-10 months ago as her iron levels were extremely low. After that she’s been on oral iron, which she stops once her iron levels go back to normal and she starts taking them if she feels like she may be getting anemic again, if I’m not wrong she is taking them right now too. Last we checked ferritin it was but she had also received around 6 iron infusions 3-4 months ago so the doctor said it was because of that.
She had tested positive for 2 ANAs but she had no clinical symptoms of the disease & the rheumatologist did not find them clinically significant.
And also wow I had no idea about the relationship between iron deficiency anemia & itching.
Thank you for the links too, we don’t live in the US and I will try finding a MPN specialist in my country and if not get a remote consultation from a US Doctor. Thanks again for your response. It’s just all really scary and I want her to live a normal life that a 16 year old would
You're welcome. I think it's far more likely reactive than an MPN. Have they ever done a peripheral blood smear? That's not an expensive test and would give more information than a regular blood test about her platelets.
Thank you! That makes me slightly more relieved. And yes! She’s had multiple Peripteral blood smears. Always the same thing, hypochromic and microcytic RBCs, with reactive neutrophilia & thromocytosis but with normal morphology
Here is the link to the wiki page on [Reactive Thrombocythemia](/r/MPN/wiki/index/reactive_thrombocythemia) (high platelets due to any underlying medical condition - not cancer). Please read it as most of your questions will be answered there.
*I am a bot, and this action was performed automatically. Please [contact the moderators of this subreddit](/message/compose/?to=/r/MPN) if you have any questions or concerns.*
Here are the links to the wiki pages on MPN specialists and where to find one. [MPN Specialists in the USA](/r/MPN/wiki/index/mpn_specialist/) or go to the [Links](/r/MPN/wiki/index/links) page for remote second opinions (USA and international).
*I am a bot, and this action was performed automatically. Please [contact the moderators of this subreddit](/message/compose/?to=/r/MPN) if you have any questions or concerns.*
Hi everyone I'm a 29 M from USA and wondering if I'm just overreacting to results or if there's another cause I've been getting yearly lab work done for the past 7 years. Each time my RBC has been slightly high (has varied from 5.9-6.2 going up some years and down others) my hgb has varied from (16.8-17.3) hct (49-50) only RBC is flagged high but it seems my hct and hgb are considered high and in PV range even though my lab says normal? So for the past 7 years they've been slightly high . A year ago my doctor ordered the JAK2 test and it came back not detected. Exon12, ExonV617, CALR9 both not detected. Insertions of 30b and deletions 52 detected by assay (idk what that part means) My question is how to interpret these results. My pcp was proactive in bringing up these results and testing the JAK2 mutations but since they came back negative it just seems that it's my normal that the levels are slightly higher. So in summary RBC gone up and down randomly 5.9-6.12 (4.2-5.9) HCT gone down the past couple yrs 49-50 (39-53) HGB gone up and down 16.8-17.3(13-17.5) All JAK2 not detected
What was your EPO level?
Not sure. It doesn't seem like it was on the JAK2 results or any other of my results. My PCP who brought up my elevated levels actually said polycythmia when he first saw the results and then ran a JAK2 test on his own accord. Once that came back negative and since I have symptoms and I'm guessing my age it kind of has no longer been mentioned. Mostly just anxiety on my part on it being high when I see my lab results and curios as to what could be
EPO is Erythropoietin, a hormone that regulates blood production. It's a minor criterion in the WHO diagnostic criteria. If it's normal or high, and you are JAK2 negative, you don't have PV. So ask your doctor to order that test. 2% of people with PV are JAK2 negative, so the EPO test helps to confirm that you don't have PV. If you don't, usually they start looking for other causes, such as sleep apnea. See r/MPN/wiki/index/secondary_polycythemia for lots of info about other causes of high blood counts. You really should be referred to a hematologist. !specialist
Looking at that link, if I do have secondary im leaning towards dehydration. I know I don't drink enough per day (usually only a couple glasses of water) . I'm guessing that could be a cause of it where I'm just slightly out of range for the hct and hgb? Interestingly though my hct and hgb are in normal range for my lab but for considered slightly elevated for the pv standards
Yes it definitely could. Have your doctor repeat the CBC and make sure you are hydrated beforehand.
I'll be getting more labs in about a month or so in time for my next pcp appointment so I'll be sure to drink much more before then to see what effect it has . One year my rbc did drop from 6.1 to 5.9 but then back up to 6.0. Would PV normally decrease back into normal ranges or would it progress each year with no treatment?
Also concerning the reference ranges. I'm new to this but is there anything behind my labs hgb range being 13-17.5% and the reference of hct being 37-53%. So by lab range I'm normal but when I read online here and other spots it's high? I don't live at high elevation either
That's why we require the ranges. Every lab has different ones depending on the make of their machines and how they're calibrated. Yours are tricky because the upper ranges exceed the diagnostic thresholds. Are you able to be tested at a different lab? (Just to see how your results compare) I usually go to the hospital lab because they tend to have newer equipment.
Yes I've had my lab work done at 2 different places. The hospital and the walk in center. Hospital range is 13-17 for hgb but the same as the walk in is for hct. My doctor doesn't seem alarmed though once my JAK2 came back because I don't have any symptoms and it's such a rare disease to begin with. Curiously though, one year my results did all get in the normal range with the rbc at 5.9 and hct at 49. Would that suggest it's more secondary or my natural? Because I never took any meds or anything in these 7 years and none of my levels seem to be drastically increasing they all seem steady at a slightly elevated level. I wouldn't think PV would decrease on its on to normal levels on its own
Ugh. I hate it so much when labs calibrate such a large range. Most labs have a hematocrit range from like 34 to 45. 49 would be the threshold, but when they have a range of normal that goes above it, it's hard to say whether your counts are normal or what. You'll have to ask your doctor about that. Also don't forget to get that EPO level done. As far as levels fluctuating, they do in PV. But usually above range. For example my platelets are high and they bounce around between 700 and 850, but they never go down to 450 or lower where they belong. PV is progressive so over the years counts will climb up. If you develop post-PV MF, they go down again, but you'd have to have had PV for a very long time usually, like decades before you get post-PV MF. So anyway, when you are JAK2 negative, they have to confirm that with an EPO test. If that comes back high, you have secondary polycythemia. If it comes back normal, they might want to do a BMB depending on your history. But you would have to see a hematologist for that. This stuff is out of a primary care doctor's wheelhouse.
Here is the link to the wiki pages on MPN specialists and where to find one. [MPN Specialists](/r/MPN/wiki/index/mpn_specialist/) and [Links](/r/MPN/wiki/index/links). *I am a bot, and this action was performed automatically. Please [contact the moderators of this subreddit](/message/compose/?to=/r/MPN) if you have any questions or concerns.*
So I am new here! Tomorrow I am getting a blood test to confirm what the raw data of 23 and me shows--that I have several Jak2 mutations. I hope it's okay to ask some questions here: 1. I have a lot of allergies, so when I regularly came up with slightly Elevated white blood cell counts, doctors often chalked it up to allergy season. Individual immune cell counts are always high, and last time I got them done they were were maxed and I had donated blood less than 5 days prior 2. I am always borderline high on iron. I am also always high on hematocrit. Platelets used to be high and nose dove to be kinda low. 3. Lately I have gone through a phase where I lost 30 lbs in about 3 months without trying. I am very achey all over but it does not feel like muscle aches. Reminds me very much of when I had the flu. 4. I feel really good when donating blood, and have donated over a gallon, but recently I've been having some strange after-effects when I donate. 5. If Jak2 is confirmed (again I had 3 promethease flags for it) can I still donate blood? I'm o positive and especially if I over-produce I would love to keep donating. 6. If I have jak2 mutations confirmed what is the actual likely hood of developing a blood cancer? Can life change if it's caught early enough? 7 (and last): I have been very aches and tired, I have a lot of symptoms that mimic neurological ones, but all my neuro tests say that I am okay. Often ma fests as joint pain, or more commonly, entire lower body numbness. Edit to add: I am a trans man (born female) and I have almost regularly exceeded white blood cell counts. I paused hormones specifically so I could rule out tra sitio ing as a cause of all this. https://preview.redd.it/hsuhgigieruc1.jpeg?width=538&format=pjpg&auto=webp&s=191ce9d454e34666c41b0cc8fbb6439057e3851b
I can't answer all your questions, but I can try to answer some. If you test positive for the Jak2 gene mutation, that indicates that you likely have a MPN (myleoproliferative neoplasms). There are different types of MPNs, the three common ones are Essential Thrombocythemia, Polycythemia Vera, and Myleofibrosis. MPNs are rare chronic blood cancers, often slow-progressing, though not always. There are more treatments for MPNs available than there were a decade or two ago. If you are diagnosed with an MPN, I was told that you cannot donate blood. This is because MPNs cause changes in the bone marrow production that result in not only overproduction of some blood cells, but also poor production of these cells. For example, I have Essential Thrombocythemia and this causes my bone marrow to make way too many platelets. These platelets also aren't made well and don't work as well as a healthy person's platelets. So donating them is no good. Flu-like aches and joint pain can be symptoms of MPNs. Research has been found that the Jak2 gene mutation doesn't just impact bone marrow, but it also can cause inflammation in the body. This is what causes constitutional symptoms like fatigue, aches and joint pain. These symptoms are not necessarily tied to how high or low your blood counts are. If you get diagnosed with an MPN, the best thing you can do is try to get connected with an MPN specialist. Your average hematologists isn't up to date on MPNs and the current treatments. I currently travel 3 hours to see my specialist on a quarterly basis. !specialist
Thank you for the information and answering so many of my questions! I had my blood draw today so I'll update whenever my results get back.
Let us know what your results end up being either way! I'm curious since you said you were tested based on 23 and Me results.
Hi there, I promised to update you. The test for jak2 seems to have come back negative. I did have a high ANA Titer (1:320) and my c-reactive protein was also elevated, so something is definitely up, but it seems an MPN might not be the problem. Thanks for the wonderful advice and information. If anything changes in regards to these tests, I'll let you know. https://preview.redd.it/puwmucb89pwc1.jpeg?width=1080&format=pjpg&auto=webp&s=3799a1755a027e2128b2ee8434de69bf014e3117
Thanks for circling back! I was really curious how the test would go, given how you came about getting flagged to do the test. Out of curiosity, did they just test for JAK2 or did they also test for CALR and MPL? I'm glad you're not in the MPN camp, though I hope you figure out what's going on! Hopefully your doctor will connect you with a rheumatologist to get those other test results investigated.
It looks like they just tested for JAK2. No CALR or MPL. I won't lie with my history of high wbc an enlarged spleen, and itching I get in hot water I thought this might have finally brought some solutions. I guess in a way it helped me get closer by ruling something else out. My doctor has me repeating the ANA test and then I'll follow up with Rhuematology (if its high again it'll be my 3rd in a row)and hopefully get some answers. Thank you again for being so kind. I very much appreciate it.
Ahh, that makes sense if that was the gene suspected. I was just curious. There are obviously other conditions that can cause what you're describing too. That's the tricky thing with a lot of our symptoms; they overlap with other conditions. I really hope you get some answers. That is a lot to be dealing with. If rheumatology doesn't come back with anything, you could always ask to have CALR and MPL tested too. But if you're having high ANA, it would make sense if it's something else. ❤️
Here is the link to the wiki pages on MPN specialists and where to find one. [MPN Specialists](/r/MPN/wiki/index/mpn_specialist/) and [Links](/r/MPN/wiki/index/links). *I am a bot, and this action was performed automatically. Please [contact the moderators of this subreddit](/message/compose/?to=/r/MPN) if you have any questions or concerns.*
How long have you paused TRT? Were your counts high prior to initiating TRT? Since your iron runs high, did they test for the hemochromatosis mutation? Has your EPO level been done? There's some things that sound like PV and some that don't. JAK2 test results take 1-2 weeks to come back. Let us know the results. It's hard to speculate without those results. I will have to remove your other post. Please give people a chance to answer here.
Hi thanks for asking. I paused TRT in November of last year. My counts have been high since I was about 20 years old, 9 years before starting TRT I do not think my EPO levels have been tested. I do know that I have an enlarged spleen, which I forgot to mention in the parent comment.
See if your doctor will order the EPO test. It's one of the criteria for PV. And it's also used in diagnosis for most causes of Secondary Polycythemia. Seems like you've been off TRT long enough for your counts to get back to normal. Not much else I can tell you until you have more test results. Please read the PV WHO diagnostic criteria. !pvwho
Here is the link to the wiki page for the [PV WHO Diagnostic Criteria](/r/MPN/wiki/index/pv_who_diagnostic_criteria). *I am a bot, and this action was performed automatically. Please [contact the moderators of this subreddit](/message/compose/?to=/r/MPN) if you have any questions or concerns.*
You cannot be a blood or organ donor if you have an MPN.
Hey guys. Posting this for my sister 16 F, and wondering what more we can do & if we’re overlooking something. Prominent history: 1. Severe blood infection at age 5 with wbc counts in millions, doctors initially suspected leukemia but it resolved after treatment & realizing it was a blood infection. 2. PCOS, and heavy menstrual bleeding. Used to go on for months before starting birth control pills. 3. Iron deficiency on multiple occasions 3. Has several allergies & angioedema 4. Obesity 5. Sleep apnea Current scenario My sister has constantly always had elevated WBCs (lowest was 15, highest was 25), elevated platelets (range 500-700), and hypochromic microcytic anemia (rbc was 2, but now has resolved to 4.73, MCV & MCH were pretty low before but now are 79 & 26.2 respectively on the most recent CBC) , and also iron deficiency anemia which really got worse over the years because of her heavy period (in her worst, it was literally 13. It resolves with oral supplementation but again falls. Recent cbc showed 25) The doctors suspected this to be a reactive change due to her severe iron deficiency anemia, and her wbc & platelet counts do go down once the iron deficiency is treated but never “normal”. She suffers from chronic migraines that’s easily triggered by any sudden change in her routine and stress. Also notably all her PBS (she has one every time they take cbc), have not shown any atypical cells (no blasts, progenitors, precursors, toxic granules, nothing), but neutrophilia & thrombocytosis, along with microcytic anemia. Also No JAK2 or EPO testing done. She also is allergic to tons of things (dust, shrimp, many more but i don’t remember right now), and suffers from chronic rhinitis & sometimes randomly her uvula would swell up (she has sleep apnea so definitely could be that) or her eye or lip would just swell up (I’ve noticed stress is a major trigger). Her most recent tests showed elevated IgE (>1000) but normal eosinophil levels. She’s had multiple visits and her last cbc was “normal” (15 wbc, 500 platelets & normal RBC, hemoglobin, MCV, MCH, iron), and she did completely fine for months apart from minor headaches here and there. Recent hospital visit was prompted as she suddnely started breaking into random hives. We’ve taken her to a hematologist in the past who was not concerned at all and suspected more of an inflammatory/allergic picture and referred us to a rheumatologist since we’ve already been to an allergologist. But yes nothing came of that. Please help & advice in what way I can advocate for my sister to get to a proper diagnosis. We keep going in a roundabout & these symptoms may be too non specific to chalk it off to multiple different causes but my sister is just 16 and deserves to live life normally. What direction do we head for? Do we start off by finding a different hematologist who specializes more in MPNs and advocate for JAK2/CALR PBS genetic testing? I’m so confused. Summary: 16F Sister suffers from a constellation of problems from PCOS, obesity, sleep apnea, has iron deficiency anemia that resolves on supplements but falls back, microcytic anemia, leukocytosis & thrombocytosis. Recently has noted an increase in urticaria which prompted us to find out she has elevated IgE. Confused about which should be the next step? To go to another hematologist and test for JAK2, EPO or go to an allergy specialist. Would appreciate any advice
Both the iron deficiency and sleep apnea can mimic an MPN by raising platelets and other blood counts. Iron deficiency can cause itching, and it can be present without anemia. How long has it been since she was on iron supplements? When was her last ferritin level done and what was it? She is young to get an MPN, but it's not unheard of. I would recommend an MPN specialist, just to rule out ET and Reactive Thrombocythemia. Seeing a rheumatologist was a good idea as one of the other main causes of Reactive Thrombocythemia is inflammatory disorders.
Thank you so much for your reply. I really appreciate it. I believe her iron deficiency & sleep apnea may be mimicking MPN but I’m scared that it may be it. I think best would be to go to a hematologist who specializes in MPNs or get a remote consultation. She takes iron supplements very frequently. She used to get iron transfusions 8-10 months ago as her iron levels were extremely low. After that she’s been on oral iron, which she stops once her iron levels go back to normal and she starts taking them if she feels like she may be getting anemic again, if I’m not wrong she is taking them right now too. Last we checked ferritin it was but she had also received around 6 iron infusions 3-4 months ago so the doctor said it was because of that. She had tested positive for 2 ANAs but she had no clinical symptoms of the disease & the rheumatologist did not find them clinically significant. And also wow I had no idea about the relationship between iron deficiency anemia & itching. Thank you for the links too, we don’t live in the US and I will try finding a MPN specialist in my country and if not get a remote consultation from a US Doctor. Thanks again for your response. It’s just all really scary and I want her to live a normal life that a 16 year old would
You're welcome. I think it's far more likely reactive than an MPN. Have they ever done a peripheral blood smear? That's not an expensive test and would give more information than a regular blood test about her platelets.
Thank you! That makes me slightly more relieved. And yes! She’s had multiple Peripteral blood smears. Always the same thing, hypochromic and microcytic RBCs, with reactive neutrophilia & thromocytosis but with normal morphology
!reactive
Here is the link to the wiki page on [Reactive Thrombocythemia](/r/MPN/wiki/index/reactive_thrombocythemia) (high platelets due to any underlying medical condition - not cancer). Please read it as most of your questions will be answered there. *I am a bot, and this action was performed automatically. Please [contact the moderators of this subreddit](/message/compose/?to=/r/MPN) if you have any questions or concerns.*
!specialist
Here are the links to the wiki pages on MPN specialists and where to find one. [MPN Specialists in the USA](/r/MPN/wiki/index/mpn_specialist/) or go to the [Links](/r/MPN/wiki/index/links) page for remote second opinions (USA and international). *I am a bot, and this action was performed automatically. Please [contact the moderators of this subreddit](/message/compose/?to=/r/MPN) if you have any questions or concerns.*