I'm JAK2 positive with ET and I'm coping well on Hydroxy with regular visits to the Haem/Oncology team. My 38 year old son mentioned that he had these huge bruises on his thighs and doesn't remember how he got them. Alarm bells instantly rang in my head. I didn't say anything to him as I didn't want to worry him or his wife. They have 3 little ones and have a lot on their plate as it is.
It could be nothing but I'm scared I may have passed a blood disorder onto him. My instinct is to get him to have his blood checked.
Am I over reacting ?
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Janglo
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It's rare that MPNs run in families but it does happen. There is a small percentage of cases where it appears to be hereditary and they think it has to do with certain secondary mutations but I don't believe they've identified which ones yet. mympnteam.com/resources/are....
It would probably be good to have it checked. My understanding is that there's a small percentage of cases where MPNs run in families and appear hereditary. But even if it's not an MPN, excessive bruising is worth getting checked out.
Edit: I found a link talking about familial MPNs that might have some helpful information: mympnteam.com/resources/are....
There is a distinction in terms that are sometimes confusing. Hereditary Thrombocytosis or Hereditary Erythrocytosis are not the same as Familial MPNs. There are some germline mutations that can cause erythrocytosis (e.g., erythropoietin receptor gene (EpoR) gene mutations ) or thrombocytosis (e.g., thrombopoietin (THPO) gene mutations). These would be considered "hereditary" since they are germline mutations. The JAK2 mutation is an acquired (somatic) mutation that is not found in the germline. However, it is known that MPNs can cluster in families. This is thought to be related to the JAK2 46/1 predisposing haplotype that makes it more likely that the JAK2 mutation will occur. This haplotype can he inherited. Here is a bit about this if you are interested. There is more information available. ncbi.nlm.nih.gov/pmc/articl...
Significant unexplained bruising is something that should be evaluated, particularly in the context of a family member with JAK2 - ET. The unexplained bruising may be related or something else entirely. It is something that need to be explained, particularly if it recurs.
Thank you all for your very helpful replies. I mentioned it to him today and he will get his bloods checked. He's been on meds for tennis elbow and he suspects it might be something to do with that. I'll keep you posted
If he is on higher dose NSAIDs for the tennis elbow, that could account for the bruising. Best do the blood check though as it is better safe than sorry.
no you are not over reacting you are a parent and doing what comes naturally. However I would suggest he puts finances in order before he starts to keep an eye on things. Once we have been diagnosed with any rare chronic illness it hampers our future.
Hi. I was 40 with 2 young kids when I was diagnosed so it was the first question I asked. It’s not hereditary. As with any health concern, best to get it checked out if he is worried 👍🏻
I had both my children checked with a blood test last year. They are 21 &18. I was worried as my daughter takes a contraceptive pill which worried my doctor. Both came back negative which was a relief however, as we all know, that doesn't mean they may acquire the mutation at some point. It's best to check though just in case than to worry. Hope it all goes well for you.
The hereditary mutation is rare as far as I'm informed. My grandmother might have had it. She died in 1948 at 57. She would have been 79 when I was born!
I can imagine how much you care about your son! If I were you, I would let him know. If he gets bruises out of nowhere he must go to a doctor anyway, else he's not being responsible for his little ones. If he has an MPN, he should get on interferon asap. Its the only way to get this illness into remission for most people and really have a chance at a normal life. : )
If he does not have an MPN, then you'll be relieved.
Important is to find the right moment and right way to speak with him. Hope to have helped.
I agree with you, to get him to see his GP and be checked. My first question to my haematologist, when I was diagnosed was to ask if it was hereditary. He said, no, which was a huge relief.
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