Good Day! This is my first post. I have been seeing a hematologist since the end of last year (2022). I have been unwell since 2017. I have been through so so so many tests and so so many doctors. We are finally making some progress and even thought I might be done with the hematologist (my BMB can back with no indication of a MPN, it did however show mild Reticulin fibrosis and low iron storage)
My CBCs have been abnormal since 2017:
WBC 13,000-19,000
RBC 5.62 ml
Platelets 350-450 (they are not within normal range after being on iron for 2 months)
hemoglobin 14.9 g
hematocrit 47.6 %
mch & mchc both are low
neutros around 8-10,000
Lymph around 6,000
I went through with the BMB, ruled out the three main driver mutations and flow test all where negative. They did find I have a germline IDH1 mutation which no one has been able to tell me what that means. My understanding is that if it wasn't germline then it could definitely mean a MPN.
My last CBC now shows elevated eosinophils along with all the other abnormal counts.
I really don't even know what my question should be. Lol. I guess I am just looking for some guidance.
Do we think I might have a mpn still yet? Does anyone know about germline mutations?
Thank you in advance
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Kmow222
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cannot speak to technical but there are several folks in this group who are so good at explaining things. I can comment that since being diagnosed by surprise with ET JAK2 18 months ago, I am not sure what normal is any more. I have a personal normal now that I learned not to compare to normal for the masses. Key to this, however, is being aligned with MPN knowledgeable staff who do make sense of it. MPN is quite diverse. I wonder if having an MPN specialist consult re your history and test results might help. While you don’t have cofirmed MPN, these specialists are highly capable understanding blood and genetics, as examples, and of course lots of real world patient experience. Wishing answers come your way soon. Stay safe.
You may have seen this report, the WHO criteria. You don't meet them for an MPN (Tables 1 and 2) That doesn't mean it's impossible but odds are not high.
Very salient discussion points and questions as always.
I had not heard of platelet abnormalities as being associated with Iron deficiency, so I took a quick look foir references and found this:
Iron Deficiency Anemia, a Rare and Potentially Underestimated Cause of Thrombocytopenia and a Differential Diagnosis of Immune Thrombocytopenia (ITP): Results from a Retrospective Case-Controlled Study
In cases of profound IDA [iron deficiency anemia] a non-severe, generally asymptomatic associated-thrombocytopenia (platelet count > 20 x 109/L) may occur and must not be misdiagnosed and treated as an ITP with secondary IDA.
Iron supplementation (either intravenously or orally) allows a quick and complete recovery of the platelet count with sometimes a transient thrombocytosis and may avoid the inappropriate use of steroids.
Why profound iron deficiency can occasionally lead to thrombocytopenia, whereas mild iron deficiency often leads to thrombocytosis needs further investigation.
IDK if that helped or hurt my understanding of the relationship between iron deficiency anemia and platelet counts, but it does serve to illustrate their complex interaction.
My Plts have been elevated since 2019. I started iron two months ago because my BMB showed low iron storage. My plts are now within normal limits.
I have not felt well since 2017. Too many symptoms to list but I have also been diagnosed with Fibromyalgia and Lyme. I'm not sure which symptoms belong to which diagnosis. 😌
Understand, I think the word "not" was supposed to be "now" in your post re iron. So iron has remedied the PLT level. Neat. As PhysAssist noted iron's effects here can be complex.
On the IDH, one of PhysAssist's links has this:
"Almost all IDH mutations are heterozygous somatic point mutations". So being "not germline" points to most every condition related to IDH including any with MPN. The other links also seem to describe somatic IDH.
So your germline version is unusual, hence your Drs' uncertainty. Heterozy and homozygous are also two types of Jak2 mutations, homozy means both genes of a pair are mutated. It might be useful to know which of the zygousities your IDH is. But only the right expert can help with this complexity.
Hi, I think if I had WBC's in the 13-17,000 range since 2017 I would want to see a top notch hematologist, probably at a university hospital or a large top rated hospital. I found a tremendous difference between my local hematologist and the specialist I see at Cleveland Clinic. I am 73 with PV. My platelets went up every year for at least 10 years before anyone mentioned it because they were below 600k. Maybe it is possible that you have something brewing but not manifested yet. I am not a MD so this is just my opinion. Best to you in getting an answer, please let us know what you find out.
Sorry to hear that you are having problems, and even sorrier that they haven't been able to pin down a specific diagnosis yet.
For your edification, I was only diagnosed with PCV in 5/22, despite >10, and closer to 15 years of persistently elevated Hct and Hgb. Also despite my having consistently reported [complained of- in medical terminology] severe persistent itching after water exposures [AKA aquagenic pruritus in MPN circles] to my PCP MD and Dermatology MD throughout this time frame. My diagnosis was prompted by an isolated RBC elevation [significantly above normal in 4/22 prior to my annual physical- at which time I was referred to a Hem/Onc MD, and by my appt w/ her in 5/22, all 3 of my blood cell lines [RBC/WBC & Platelets] were well/significantly above normal.
The point of this is to say that the disorders we're all here discussing are always an evolving process, and just because you're at a certain point presently, doesn't mean that your situation won't change and that a diagnosis may become clearer over time.
I had never heard of "germline IDH1 mutation" until I read it here, but a quick look into my medical resources located these articles:
IDH1 gene
A gene that makes a protein that helps break down fats for energy and protect cells from harmful molecules. Mutations (changes) in the IDH1 gene have been found in several genetic conditions and in some types of cancer, including acute myelogenous leukemia, myelodysplastic syndromes, and brain cancer. These changes may cause abnormal cells, including cancer cells, to grow and spread in the body. Also called isocitrate dehydrogenase-1 gene.
This may actually be the most helpful article I found- it lists the normal functions of the gene, and also the health conditions that can be associated with it.
Interestingly this was listed there: Primary myelofibrosis-with a link to more information:
I germline mutation is a mutation that can be inherited. It differs from a somatic mutation, which is acquired after birth.
While it is worth knowing more about the IDH1 mutation, suggest not diving too deep down this rabbit hole. This is an issue that requires expert consultation to fully understand.
Here is a bit of information.
A gene that makes a protein that helps break down fats for energy and protect cells from harmful molecules. Mutations (changes) in the IDH1 gene have been found in several genetic conditions and in some types of cancer, including acute myelogenous leukemia, myelodysplastic syndromes, and brain cancer. cancer.gov/publications/dic...
"Mutations (changes) in the IDH1 gene have been found in several genetic conditions and in some types of cancer, including acute myelogenous leukemia, myelodysplastic syndromes, and brain cancer. These changes may cause abnormal cells, including cancer cells, to grow and spread in the body." cancer.gov/publications/dic...
The best thing to do at this point would be to seek an expert opinion from one of the larger institutions with doctors with expertise in rare disorders like MPNs These are often major university or hospital systems where research is done. starting with a MPN Center would make sense given where you are at now. Note that there are more types of MPNs than the classic MPNs ET-PV-MF. mympnteam.com/resources/typ...
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BMB- 16 year old daughter JAK2+ ET
what to think? 
Very scared for life. Need assistance 
ET JAK 2 positive
