My son, age 22, had high RBCs, hemoglobin and hematocrit that were noted after his third routine CBC of his life. They were high and trending up over time. Referred to hematology and they did a lot more blood tests and supposedly ruled out all the things that could be causing his counts to be high. Even had the JAK2 test and was negative. In the absence of any other reason, the doc says it is because of his anxiety. He has had two venesections now six months apart, the most recent one was for HCT 53. He doesn’t have panic attacks or have a high stress life, so this seems unlikely to me that it’s being caused by anxiety. He is a worrier and has some social anxiety for sure.
I have been reading on this forum how people have diagnoses that change over time. I’m wondering if the JAK2 test can change over time?Also, he is so young to have this, anyone else out there have any thoughts on his situation?
Thank you.
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Sammie1997
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Hi, this must be a real worry for you. Your son is so young.
I also agree with the doubt you have with anxiety as a cause of his idiopathic erythrocytosis. Was it the GP or haematologist who said that? I would suggest at this stage to ask for a second opinion and be looking for highly rated haematologists.
Thank you for your response. It was a hematologist who said it. And she is the only one in my state listed on the list provided here. She comes highly rated.
I don’t really want him to have to go through a BMB but I hate the “wait and see” approach. I’m wondering if his HCT keeps going up each time, if I should ask for a repeat of the genetic testing. Not sure if there are more specific tests than JAK2 or if it can change over time?
His first venesection his HCT was at 51 and dropped to 45, then after six months his HCT was 53 and they didn’t repeat the CBC after the venesection this month. They took 500 ml each time and his blood was very thick. Told us to come back in six months but I think he should checked again sooner, since one treatment will drop it only 5-6 points.
I am willing to seek a second opinion and am thinking about Mayo Clinic in AZ. Anyone has experience with them?
I live in the UK - but I am aware of the Mayo Clinic and it’s excellent reputation. MD Anderson is highly rated too.
I’m not too sure about PV. I have ET, I am Jak2+ (V617F). The majority of PV patients have this mutation. I ‘think’ a very small fraction of PV patients can have a mutation in the exon 12 of the Jak2 gene. I wonder if they have ruled this out in your sons case?
I hope someone in the USA can advise you on the clinics.
I'm sorry about your son. I agree that it is doubtful that it is related to stress. I do recall reading recently somebody who had previously tested negative for Jak2 finally became Jak2 positive several years later. I'd recommend researching causes of secondary polycythemia so you are well informed on the causes of it. (There are many causes.) That way you can verify that your doctor did indeed investigate every possibility.
Thank you for your response. I thought I read about JAK2 converting like that too. I’m curious if there is any research out there on if this can happen.
I’m just so grateful we are aware of it now instead of it creeping up on him and ending up with a stroke or heart attack in his 40’s. This isn’t what I wanted for his life, but I am determined to make sure he gets the best care we can find.
Hi I’m in my 60s but am having the same issue. I’m going to Hemotologist in my group insurance but thinking of going to Stanford. I live in Mexico but have a daughter in San Francisco. I also heard a woman who was jak2 negative on one test but positive on another. I’m thinking of going to Mexico City to get the test done at another lab. Good luck and my stress level has never been addressed!
Hello. Yes, it can be caused by stress and anxiety. My blood results was greatly influenced by those factors. I had HTC even 54 and my doctors didn't do anything. When I was relaxed and repeated the analysis, the HTC droped down to 50-51 (still great, but not that great)
You can also see stress erythrocytosis (Gaisbock syndrome)
This obviously doesn’t sound normal. I had 2 blood tests yearly because of my thyroid problem and for 8 years it was visible that I had Essential Thrombocythemia and no one took it seriously until my third TIA (minor stroke). It is time to see another doctor. Everyone should have a second or third opinion, or 10th if necessary.
I have heard of 12 yr olds (rare) who have ET. There isn't only the Jak2 mutation, but also CALR, one more and a few that are not identified. Most have Jak2. Did he have a bone marrow biopsy? I really hope you get to the bottom of this. Stress does play a role, so does immune health. It is always good to go to a good holistic doctor to check out the how his body is processing vitamins, minerals, metals, methylation, etc. He may have intolerances, genetic tendencies, etc. It’s really worth looking at.
I wish you all the best. Take really good care of your son. Anag.
P.s. you can write us any time. You’ll get wonderful support here!
I have a streesfu job that often causes anxiety- my blod platelettes started increasing when I strated this job. In some way I feel anxiety is connected.... but everyone is different....
PFCP is inherited in an autosomal dominant manner, but some people with PFCP have no relatives with the disease. In about 12-15% of people with PFCP, it is caused by mutations in the EPOR gene. However in most people, the genetic cause is not yet known. Most people with PFCP do not need ongoing treatment. Some people with high blood volume need to have blood drawn periodically (phlebotomy) to treat symptoms or to maintain close-to-normal hematocrit levels. Some people with PFCP need medicines to lower blood pressure
If we are under Primary familial and congenital polycythemia, then
The vast majority of published data regarding the prognosis and management of PFCP are obtained from case reports and opinion of experts and no specific guidelines have been issued yet. The most common complications are hypertension and thrombotic manifestations such as deep vein thrombosis, coronary heart disease, and even myocardial infarction. There are no reports of acute leukemia or myelofibrosis transformation among PFCP patients.[5]
The mainstay of disease management is to maintain good hydration and to avoid all exacerbating factors such as smoking, mountain climbing, and scuba diving. In most instances, no regular treatment is required. Phlebotomy is indicated to control the elevated HCT level if there is evidence of hyperviscosity features. The aim of phlebotomy is to maintain HCT lower than 45%.[45]
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