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Are the symptoms in my head? Polycythemia Vera + Mastocytosis (age-23)
Hello, am I crazy?
I'm a 23-year-old biological female with a complex medical history. I'm going to list my pre-existing conditions, before I started hematological workup.
- Generalized Genetic Medication Resistant Epilepsy
- POTS
- hEDS
- MCAS
- Endometriosis
- Neurogenic Bladder with Urinary Retention
- ME/CFS
- Allergies, asthma, eczema
- Single right kidney
- Stage 3a Chronic Kidney Disease
- PKD
In fall of 2020, I had a short bout of Polycythemia with Splenomegaly (13.8cm). It went away as quick as it came on, so it was ignored.
In July 2024, labs showed Polycythemia with elevated RBC, Hemoglobin, and Hematocrit. Please note I didn't know about these labs, but I started to have symptoms of itchiness/rashes/eczema (water exposure is a consistent trigger), and being freezing, even during the 90+ degree heatwave SoCal had. It wasn't paid much attention to, until it got worse in September. I saw my Dad's Hematologist, since he has Hereditary Hemochromatosis, and thought it was Secondary Polycythemia and ran labs.
Secondary is unlikely because:
- This happened 4 years ago, and indicates a systemic issue.
- I don't smoke, live in high altitude, take steroids, have sleep apnea and hypoxia (even during seizures; my O2 is fine). I have asthma, but it is well controlled.
Labs showed Polycythemia, EPO of 3.8 (low-normal), and that I'm a carrier for Hereditary Hemochromatosis, which we knew 21 years ago when I was tested after my dad was diagnosed. The hematologist diagnosed me with Hereditary Hemochromatosis, even though my ferritin is consistently low! When I brought up Polycythemia Vera (PV), he really thought I lost my mind, because I didn't have the JAK2 gene and I'm a 23-year-old female.
I saw another Hematologist, who seemed a bit more open. I did complain about lower left rib pain, something similar to 2020, but he brushed off the possibility of splenomegaly. He agreed to a bone marrow biopsy, and when labs were taken, my RBC was normal.
About a month and a half later, at my annual check-up, upon request, my PCP felt my spleen, and said it was palpitating. I got a stat ultrasound which showed a moderately enlarged spleen measuring 14.4cm. So if the splenomegaly is from the Polycythemia, I wonder why the RBC deflated a bit! (sarcasm).
Bone marrow biopsy came back, some of the results are below.
______________________________________________________________________
BONE MARROW (ASPIRATE SMEAR, TOUCH IMPRINT, CLOT AND BIOPSY):
- Slightly hypocellular bone marrow (35%) with trilineage hematopoiesis.
- No increase in blasts or significant dysplasia by morphologic evaluation.
- No increase in mast cells is identified by immunohistochemistry.
COMMENT:
This bone marrow examination demonstrates unremarkable morphologic features except for slightly hypocellularity for
age. Evidence of mastocytosis is NOT identified by using immunohistochemical analysis. Please correlate with the
clinical findings and other laboratory data for a complete assessment.
MICROSCOPIC EXAMINATON:
CD34 Highlights endothelial cells; no increase in blasts
CD71 Highlights islets of erythroid precursor
CD61 Highlights megakaryocytes that are scattered in distribution
CD117 Highlights scattered rare mast cells; no increase in blasts
Tryptase Highlights scattered rare mast cells
CD3 Highlights scattered lymphoid cells consistent with T-cells
CD2 Highlights scattered lymphoid cells consistent with T-cells
CD25 Negative
CD30 Negative
NO alterations detected in the following genes:
CALR, FLT3, IDH1, IDH2, JAK2, MPL, NPM1, TP53
______________________________________________________________________
The Hematologist tentatively diagnosed me with Advanced Systemic Mastocytosis (ASM), and ruled out all MPNs. I just still have this weird, funny feeling about PV, and I don't know why. He thinks the splenomegaly might be from elevated mast cells, and we already know I have an increased number of mast cells in my gut, but they aren't aggregated or clustered.
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Colonoscopy (2020):
No mast cell aggregates or concentrations; no abnormal clustering.
Duodenum Mast Cells
Normal Range: 15-20
Mine: 34
Duodenal Bulb Mast Cells
Normal Range: 16-30
Mine: 37
Terminal Ileum Mast Cells
Normal Range: < 20
Mine: 50
Left Colon Mast Cells
Normal Range: < 20
Mine: 37
______________________________________________________________________
This ^ was chalked up to MCAS, despite the diagnosis being described as a normal amount of hyperactive mast cells, while Systemic Mastocytosis is an abnormal amount of mast cells; in a simplified sense.
The Hematologist did say most of his patients biopsies are clean, but at least he won't give up. I'll have another biopsy in 6 months, and in the meantime, should try Ayvakit to see if it helps my symptoms. I'd be curious to see if the medication lowers my spleen size. I would just hope it doesn't influence the results of the biopsy.
The symptoms are so simple...itchiness, coldness, and splenomegaly, but are so disruptive to my life. I am glad I graduated college this year, because I would most definitely have to drop out if I had to deal with senior year with this.
The itchiness is complicated because antihistamines lower seizure threshold, and Benadryl, my one true savior, is now obviously causing seizures...it's significant because I have no triggers. The coldness, I've bundled up, but sometimes materials will all of the sudden bother me and make me itchier, so the air or even putting ice on helps. I have to take cold showers to reduce the itchiness after showers, which leaves me freezing my ass off. The splenomegaly is causing extreme nausea and early satiety. It's Christmas and I'm barely eating, which is VERY abnormal for me.
There's a little annoying voice in my head still concerned about PV, but I know if the Ayvakit helps, especially for the splenomegaly, I hope that voice quiets down for good. But, I also can't help but question myself if I'm blowing this out of proportion, intentionally or not, for some reason. Why? I don't know. I'm already disabled and chronically ill, so I know the shit that comes with it. Also, I REALLY do not want to feel this way daily!
I know my case is a bit unique and rare, but can anyone weigh in?
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Welcome to Connect, @isabellereine. You’re not crazy but you certainly are complicated! ☺️ For being only 23 years old, you’ve had more than your share of medical adventures and my heart goes out to you for some of the symptoms you’re experiencing.
Firstly, congratulations on graduating from college. I can only imagine the challenges these progressing symptoms are causing you. The itching alone is enough to drive someone bonkers. I had experienced those syptoms early in my diagnosis…totally unrelated to yours! Many ailments can be behind itching, not limited to Polycytmenia vera.
Your current hematologist has tentatively diagnosed you with mastocytosis. From the information provided by Mayo Clinic (link below) mastocytosis often involves itching. This can happen when mast cells that protect the body from allergens mutate, creating abnormal cells that set up a continuous allergic response. Another of the side effects can be an enlarged spleen.
https://www.mayoclinic.org/diseases-conditions/systemic-mastocytosis/symptoms-causes/syc-20352859
Your doctor is suggesting Ayvakit, which is a medication for controling mastocytosis. It might be a good place for you to start. You may find it works for you and you can put the thoughts of PV to rest.
Another consideration, since you have a complicated medical history, you might want to get a 2nd opinion from Mayo Clinic. Here’s a link to their website where you can initiate the request for an appointment if you’re interested. http://mayocl.in/1mtmR63
I’m curious, why are you hesitant to start your treatment with Ayvakit?
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5 ReactionsThank you so much for your kind reply!
I’ve been on a med similar to Ayvakit, Imatinib, and it did tear my stomach apart, but remarkably helped my MCAS symptoms. If I get relief from itching, I think the GI symptoms will be a reasonable trade off.
I’m just still concerned about the Polycythemia piece. I was thinking of trialing Hydroxyurea and monitor symptoms, labs, and imaging; but I know there’s more of a chance of it not working.
It’s a part of the puzzle that just seems so out of place, with no explanation. It’s not primary nor secondary.
Additionally, the symptoms seemed tied to the Polycythemia, considering the timing of everything. With my bone marrow showing hypocellularity, it’s quite clear my body didn’t read the textbook!
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2 ReactionsYour doctor has pretty much ruled out PV, even with the bone marrow biopsy. Hydroxyurea (HU) is a type of chemotherapy that can be very beneficial for patients with PV. However it’s not a medication you want to take if it isn’t necessary. It also comes with its own possible side effects. So maybe it would be better to take the Ayvakit your doctor recommended for the mastocytosis to rule out one suspected cause of your symptoms before moving onto HU.
If you read through the article link I gave you from Mayo for mastocytosis, the signs and symptoms of systemic mastocytosis may include:
Flushing, itching or hives
Abdominal pain, diarrhea, nausea or vomiting
Anemia or bleeding disorders
Bone and muscle pain
Enlarged liver, spleen or lymph nodes
Depression, mood changes or problems concentrating
Also, further down “systemic mastocytosis can affect your bones and bone marrow…” which may account for the hypocellularity.
There may be validity for your doctor to suspect mastocytosis based on your symptoms and test results.
But I’m also a firm believer that a person just has to follow their gut, and yours is staying PV. Whether you have PV or not, or if your itching and enlarged spleen are side effects of the mastocytosis or another condition, I’m getting the feeling that you’re not quite trusting your hematologist.
I think maybe seeking a second opinion from a larger teaching hospital such as Mayo Clinic might be a good thing for your peace of mind and getting a firm diagnosis.
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5 ReactionsYes, I definitely fit the systemic mastocytosis symptoms, and it’s been brought up before, but just labeled as Mast Cell Activation Syndrome (MCAS), which I also definitely have. The fact that one set of labs had normal RBC is winning my hematologist over but not me. Labs fluctuate all the time, especially near IV saline infusions.
My PCP will fill out a form for Mayo’s second opinion program, where I’ve been denied and accepted lol, but hopefully it’s a simple enough case, ignoring my medical history.
My hematologist can’t prescribe the Ayvakit since I don’t meet the WHO or ICD-10 criteria, but my allergist, who can make a case of using this for MCAS, will have to be the one writing the prescription. My follow-up with her is 1/13. However, I did email my nephrologist, since there is a renal impairment warning on the Ayvakit. The second option is Imatinib, which is fine kidney wise since I was on it shortly, and the third he suggested was Hydroxyurea. It’ll definitely be a “collaborative” effort between hematology, allergy, and nephrology.
I was diagnosed with MCAS long before it was separated from being apart of hEDS symptoms, since my doctor had connections at NIH. The fact systemic mastocytosis has been denied for over 10 years is baffling, I think. My gut isn’t always right…the epilepsy was a shock to everyone and I was quite wrong, I certainly have it! And my bloodwork still isn’t 100% consistent with lupus and/or MCTD, but my rheum tests me every year since we both strongly believe that it’ll start to change. It’s also strange that the symptoms came with the polycythemia, but I think I’m the only one hung up on that. But when that hypocellularity came back, it really defeats the case. I’m new to hematological issues, and I most certainly didn’t attend medical school, so it’s still a bit new and I’m still learning everyday. There’s so much overlap with pre-existing conditions, it’s making me quite frustrated. Having your perspective, a patient, is invaluable, though, and I really appreciate you taking the time to explain!
Mayo Clinic loves a good challenge so I really hope you’re able to be seen by a specialist to help get a firm diagnosis and treatment. You have a mystery that may take some sleuthing!
Their hematology department is 2nd to none. I’m a bit biased because of outstanding care I’ve had in Rochester for over 5 years. An advantage of Mayo is that all departments works collaboratively for the benefit of the patient. With your preexisting conditions it would be helpful to have that ability of multiple disciplines!
You’ve already learned so much about your medical health, far beyond most people your age who haven’t gone to med school. ☺️ I think your intelligence and curiosity really benefit you when working with your doctors.
What was your college degree?
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2 ReactionsI hope so! I want to make sure I have some level of understanding of the technical elements, in order to effectively communicate how I'm feeling and how it might interact with my other diagnoses!
While I thought I might become a nurse practitioner for awhile, my heart was with film. I majored in Broadcast Journalism and Documentary with minors in Psychology and Disability Studies. One of my doctors like to joke that he's sad I won't replace him when he retires; but I try to push for advocacy in film!
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1 ReactionIsabelle,
I have PV and have great relief from that terrible itch after a shower by taking a hot bath of at least 30 minutes. It works for me. Of course to keep my hematocrit below 45, they draw off a pint of blood-every 3-months or so.
Best,
Rob
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