I was diagnosed with essential thrombocythemia in 2020. Although my platelets have been elevated since I can remember, and my father passed away due to what seems to have been high-risk myelofibrosis at age 62, it took a while to convince my hematologists to test whether the mutation I have is inherited. The results are in and my mutation, MPL R102C, is germline, it is inherited. So now my diagnosis was changed from essential thrombocythemia to hereditary thrombocytosis.
I received the whole "as there is no clone, HT strictly does not enter into the chronic blood cancer category," and I held my ground and mentioned that the mutation I have has the same effects on my body as any sporadic mutation that results in ET would have: increased number of platelets, dysfunctional platelets, risk for clotting and bleeding, risk for transformation in MF, etc. So while this diagnosis means that, sadly, there is no treatment for me other than aspirin, the effects HT has are the same as ET. And that I do not want to fall through the chairs because at the moment there is no treatment for HT and that not much is known about the mutation I have.
My hematologist is OK and well informed, so I am lucky in that way. I just want to make sure I push as much as I can for better research and better knowledge about hereditary thrombocytosis (HT).
Written by
TTA_
To view profiles and participate in discussions please or .
Sorry to hear they won't treat you the same as if you had ET that's not fair as like you say it carries the exact same risks only difference really is that you were born with it and it wasn't acquired. As you might remember my partner also has a germline mutation: jak2 v617i . So it's interesting to speak to someone else with HT as that's what my daughters diagnosis is. It doesn't show on her letters from the childrens hospital as MPN or ET even though her platelets are 867 on the last test and has a jak2 mutation. I'm not sure whether that will change after a BMB though...
Hopefully, the doctors will give your daughter the correct diagnosis and will do an adequate monitoring and, with some luck, your family (partner and children) will be included in a study. Because that is the way forward, both for learning more about the mutation, and for efforts for a treatment to be found. I hope your children grow without being affected too much by the higher level of platelets and that they can grow into happy and accomplished adults. And, in time, we can hope for something close to a cure.I am fighting to be included in studies and to raise awareness about hereditary MPNs. I was so very lucky to not have had serious issues throughout my childhood and adolescence, except for some bleeding episodes, because there was no diagnosis and no treatment, high platelets were blamed on iron deficit, growing up, etc. I do not want another child to pass through that.
Thankyou that means alot, they are in a study now already so hopefully that will bring something to light! I'm so glad you are trying to raise awareness for this as well I think so many cases are hereditary that aren't known about. We were told when my partner was initially diagnosed it's not hereditary and he was told he had the jak2 v617F.. we then found out my daughter had it & the diagnosis changed from the F mutation to the I mutation.. turns out his mom and aunt also have it and it's germline.. alot more research is definitely needed in the subject.
I am glad to hear you have a definitive diagnosis. I do not know much about HT. My understanding is that it is only high-risk cases that get recommended for cytoreduction. Please do keep us informed on how things go in your case and what you learn. We can all benefit from your knowledge.
According to my hematologist, who explored the scientific literature on current treatments for HT and what could benefit HT patients, cytoreduction is not recommended for HT patients, as cytoreduction is based on ET/PV, where there is a clone. As that is not the case in HT, where the mutated gene is in every single cell of the body, not just blood and bone marrow cells, as long as HT doesn't transform (because HT can and does transform, despite myths that it doesn't, studies show transformations), the only recommended treatment is small dose of aspirin. For the rest, only focus on treating individual symptoms.
Apparently, more research is done now to understand germline mutations, especially THPO, MPL and JAK2 germline mutations. My hematologist hopes for better knowledge in 5 years from now. I hope my HT stays calm in the next 5 years.
I was diagnosed with ET with mpl mutation in Ireland in 2023 and have been told by my consultant and experts at mpn forums which I have attended that ET is not hereditary. What you have posted is enlightening and makes me wonder…. Thank you and wishing you good health always
Morning I can only applaud your perseverance. Having at least a clear diagnosis really does help and standing your ground is not easy . I am still on that road .L
That's interesting. I was diagnosed with MDS/thrombocytosis, which is very confusing when everyone is talking about ET. I would love it if someone would enlighten me. The other thing is that some of us don't have parents any longer, and I have no children, so we cannot know whether it's heredited or not. I have no mutated genes either, and it's just aspirin and watch and wait, as well as Epoitin for the MDS.
I am sorry you are left without better answers by your doctors. Your situation is quite complex. It is not that difficult to find out if you have non-canonical mutations, for thrombocytosis. Your MPN specialist just needs to test you with a broader genetic panel, that explores the entire JAK2 and MPL genes, as well as non-driver mutations, not just the parts of the genes where canonical mutations are located. My hematologist told me this too, that many patients who were considered having no genetic mutation were found to have mutations with broader panels. Regarding knowing if your mutation is germline, once you have a pathogenic mutation identified, that is not that difficult. You need to test the DNA of cells that are not blood or bone marrow cells, such as skin or nails. Sporadic mutations, i.e., the mutations we acquire during lifetime and that are the most frequent mutations causing MPNs, can be found only in blood and bone marrow cells. Germline mutations, inherited mutations, can be found in the DNA of every single cell in your body.
Thanks for sharing. Well done for persevering and getting a clear diagnosis now. Hope the studies progress understanding of and treatments for HT soon.
Content on HealthUnlocked does not replace the relationship between you and doctors or other healthcare professionals nor the advice you receive from them.
Never delay seeking advice or dialling emergency services because of something that you have read on HealthUnlocked.