Hi, this is my first post and pending my bone marrow biopsy and aspiration results I have ET with no mutations.
My blood test investigations have shown I have had the condition since at least 2011 however it's persistence was missed by GPs.
I have had symptoms for a very long time including stiffness, fatigue and multiple miscarriages. The recent investigation was prompted by an onset of DVT.
My question is if there are any others here who have ET with no known cause, and if so how then were you confident that the condition is primary and not secondary.
I'm a little concerned about taking hydroxyurea, especially since I am in an even rarer minority than this already rare condition. I have high platelets however I also have a condition where my blood clots faster too.
I'm worried the specialist may be missing something.
Any support is extremely appreciated.
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Stillkickin
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So sorry to hear of your difficulties. I have ET JAK2+, so not the same issues as you, diagnosed after a mild stroke in 2015. I would suggest that you seek another opinion from an MPN specialist and also seek more advice about medication options eg Pegasys interferon.
I can’t help you with your question, but there are people on the forum with ET who are triple negative, including Maz the forum administrator.
I imagine your bone marrow biopsy has concluded your ET is primary and not secondary. You should ask your Specialist this question.
Your Specialist main concern will be your thrombotic risk. Your prior history, high platelets, DVT and another clotting disorder sounds ‘high risk.’ I don’t know your age, but understand your reluctance to commence hydrea particularly if you are young. Have you asked about Pegasys ? This treatment is being offered to more and more younger patients, you may have to push for it though. Having said that, I take hydrea for ET and have no issues with it.
I see you are based in Australia. I have posted two links below. MPN Mate is based in Australia. MPN Voice is based in the UK. Both are professional, informative websites for MPN patients and or their carers.
There is more to MPNs and the risks than the thombocytosis alone. For some of us our blood cells can be "extra sticky." This is thought to be more of a risk factor than the platelet level per se. On the other hand, some of us respond to the thrombocytosis by increasing our risk for hemorrhage, Our cells are "not sticky" enough. (Note gross oversimplification of a complex process). For all of us with a MPN, seeking consultation with a MPN Specialist is the key to receiving optimal care. Many hematologists do not have the KSAs to provide optimal care. They do no have the depth of experience to individualize your care. Most often they will default to a "standard protocol" - which may not be the best thing for you individually. Your reluctance to consider HU is reasonable. There are likely better options, particularly if you are younger. You have the right to determine what the appropriate medication for you is. Doctors advise and write orders. Patients decide. I would do whatever it takes to seek consultation with a MPN Specialist. mpnforum.com/list-hem./
Here are a couple of very informative videos by Dr. Jerry Spivak, one of the leading experts on MPNs (and my former consultant). I hope these help.
Really sorry to hear about what you have been through and that it has taken so long for a diagnosis. I was diagnosed at 23 years old and now 41 and still do not know what caused my ET as definitely not hereditary. I was on hydrea to start for a few years but developed stomach issues so went on to pegulated interferon which had flu like symptoms to start but generally felt a lot better. I was able to have 2 children on pegulated interferon but also had 2 miscarriages. However the care I received during my pregnancies was amazing and had my first by C section because he wouldn't turn around and my other natural birth. My platelets didn't really go up very much during both and had scans regularly to check everything was okay every 4 weeks after my initial 12 week scans. I also am JAK2 positive but this didn't come to light until about 5 years ago. My platelets in general are larger and more sticky which I think is pretty common. Definitely get a second opinion but your bone marrow biopsy should be able to give you all the information both you and your consultant need - I am here if you want to chat or have any questions and really hope your biopsy goes okay. Take care
Hi Stillkickin, welcome to our forum. We all understand how you are feeling at the moment, it is a very worrying time when you are waiting for a definitive diagnosis and also waiting to know whether or not you will be started on medication. As Mary has said, I have ET and am triple negative, we don't know why we get MPNs, there is a lot of research ongoing looking into the causes of MPNs, in particular the MOSAICC epidemiology study.
I would advise that you look at our website mpnvoice.org.uk, there is a lot of very useful information on there about MPNs and the different medications used to treat them. There are also a lot of videos of specialists and patients talking about MPNs, and also have a look at the real stories.
Have a read also about all the different medications, this will help you I am sure to be able to have as much information as you can when it comes to having a discussion with your haematologist about your treatment plan and the different options available.
We are all here for you. Take care and best wishes, Maz
I had symptoms for years before my diagnosis in 2001. BUT in 2001, no one knew what JAK2 mutation was...or MPL etc etc. It's so much easier these days than when I was pottering around having monthly blood tests to monitor my ever-increasing platelet count. A haematologist, after a BMB, and with my platelets almost at 1 million eventually just said I had a blood disorder, probably "one called ET".
She claimed a secondary thrombocytosis would have had other symptoms and eventually my platelet count would have returned to normal...
She was right...in 2006, after a liver transplant as a consequence of a thrombus, I was tested for JAK2 and am positive.
You could seek a second opinion, but I think your haematologist's hunch is likely to be right.
PS my platelet count has been normal for years, spontaneously, so I don't have that obvious one as a symptom. ...
Hi Stillkickin, I have ET triple negative, according to my results from a BMB in February of this year. I was told they don't know the cause and there is no cure but there is no doubt this is what I have. I am still trying to come to terms with my diagnosis and trying to accept my symptoms as being an ongoing part of my life now while learning how to best manage them.
I am currently on asprin daily. Haemo explained to me that he wants to avoid putting me on any stronger MPN meds as long as possible due to side effects I could or would experiance (not sure which) . I suffer from fatigue, bone/joint pain, light headeness, etc etc. I am doing a weekly symptom checker for Haemo as per his instruction. Presume he will discuss this at my next consultation, due later this month (probally via telephone as local outbreak of covid currently in my area !).
My symptoms are quiet strong especially fatigue and stiffness and bone aches. I walk at least 30 minutes everyday and spend 10 mins every morning doing stretching exercises in bed to get my blood flowing and reduce stiffness/aches in feet and hands. I also drink alot of water in the morning. I have picked up most of these tips from fellow posters on this site. Hope this gives some help and support to you. All the best 😊, E
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