Is et hereditary : does anyone know is et... - MPN Voice

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Is et hereditary

Irishgal12
Irishgal12

does anyone know is et hereditary?

My specialist said no but i have read something that says yes and now am worried about passing it onto children

41 Replies
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No one else in my family has it or has had it.

Hopefully it isn’t hereditary.

IainF
IainF in reply to DebraNL

Although....

I have PV and so does my Dad but it is not hereditary apparently.

And in another weird coincidence a good friend of mine has ET.

Aneliv9
Aneliv9 in reply to IainF

Why is not hereditary ? You and your father have it...

krotsida
krotsida in reply to DebraNL

My father and brother had ET , but not my mother.

From what i heard inthe last Webinar, only a small fraction of ET is hereditary. The vast majority is not. I am the same case as you,i can totally understand you. 37 eith two little girls (2.5 and 3.5 years old)

Irishgal12
Irishgal12 in reply to Aneliv9

Its awful as I can't get a straight answer

Aneliv9
Aneliv9 in reply to Irishgal12

But the best straight answer right now is this. It CAN be hereditary in only a small minority of patients. In the vast majority it is not. I can understand how this can make you anxious. I am anxious to but less than before, cause the said a "small minority".

Aneliv9
Aneliv9 in reply to Irishgal12

Also,even if the pattern is autosomal hereditary (or something like that!) ,if i understood well, the chances are 50% to pass it a parent to the children.

ghr.nlm.nih.gov/primer/inhe...

Mood2020
Mood2020 in reply to Aneliv9

Hi there Aneliv9

Which webinar did you hear this in. Are you able to send me the links. I’m new to the community only got diagnosed 5 days ago, trying to get as much information as possible. I’m having a lot of symptoms with the condition they’re not sure if it’s due to the ET or another rare condition happening at the same time. I have w little 2 year old so it’s hard for me to keep up with her

Jennytheb
Jennytheb in reply to Mood2020

Hope you get sorted soon, take care. Very scary I found it at first but now just accept and all my meds are sorted and lead totally normal happy life.

CalrType1
CalrType1 in reply to Aneliv9

Agreed. My research reveals it can be hereditary and has been proven it is. Yet, majority of professionals say not or very few. MPNs have limited scientific solid ground, and I choose to research as much as I can and come to my own conclusions about my ET. I told my children to assume it is hereditary. My Dad, his Dad and uncle, and their dad all died of heart attacks before retirement. I remember my dad would get cut and his blood was so thick. GL,

Interesting study on higher prevalence with Ashkenazi Jews which Professor Harris referred to during recent round table - don’t know much else but guess this study was concluded

mpnresearchfoundation.org/S...

Uzza
Uzza in reply to Dovme

Just FYI I am of mostly Mizrachi descent but via Europe and I am Jak2 positive,

There is active research underway regarding Familial MPNs. It is known that MPNs sometimes cluster in families. It appears that there is a JAK2 haplotype that creates a predisposition to acquire the JAK2 mutation later in life.

A few key things to understand. There are two types of mutations involved. Germline mutations are present in your base DNA and can be passed on the children. Somatic mutations occur in various peripheral cells and cannot be passed on. The JAK2v617f mutation is a somatic mutation present in hemapoietic stem cells. It is not present in the germline DNA. It is not understood why the JAK2 mutation is acquired. It does appear that some people are more prone to acquiring this mutation than others. There is a JAK2 haplotype that has been identified in germline DNA. This haplotype can be passed on, thus (in theory) MPNs can cluster in families. Note that having the JAK2 haplotype does not mean you will develop the JAK2 mutation (and a MPN), just that you are more likely to.

Regarding mutations in general, everyone has them. As we age and our cells constantly replicate, errors get made in the transcription of genes. The vast majority of these mutations are "silent" - they have no effect. There are also different types of mutations including substitutions (transitions or transversions), insertions and deletions. The different types of mutations tend to have different kinds of effect.

FYI - I do have the JAK2v617f mutation and the JAK2 haplotype. I was diagnosed with ET over 30 years ago, which progressed to PV. My daughter also has the JAK2 mutation and is currently diagnosed with ET. It looks like she may be progressing to PV as well. My son is negative for JAK2, but does currently have mild erythrocytosis for unknown reasons. All three of us also have Neurofibromatosis type 1 (NF1:c5425C>T) - which is a germline mutation. We are participating in the Familial MPN Study being conducted by Dr. Angela Fleischman. mpnlab.org/

Hope that helps answer your question.

Mood2020
Mood2020 in reply to hunter5582

Thank you so much for this

Aneliv9
Aneliv9 in reply to hunter5582

How old was your daughter when diagnosed? Are you stressed about this? Also do you have you any insight from this trial and what maybe the cause be?

hunter5582
hunter5582 in reply to Aneliv9

My daughter was diagnosed with JAK2+ET in her early 30s, just like I was. Also like me, she is mostly asymptomatic except for numbers on a CBC. She is on an aspirin and monitor protocol. She does have some similar issues with systemic inflammation. Our situation is more complex in that we also have Neurofibromatosis Type 1. NF1 is germline mutation unlike JAK2. She was actually the first one diagnosed at age 2. We subsequently found out that I have NF1, as does my Father, son and multiple siblings and their kids.

I am of course concerned, but not stressed. We have been dealing with these issues for long time. My son was born with a pulmonic stenosis and had to have open heart surgery at 6 months. Turns out it was NF1 related. He will have to have follow up surgery now 38 years later. We will be dealing with that shortly and will do whatever we need to do to support him. My kids were there for me during the brain surgery I had last year that was also NF1 related. It is much less stressful when we are there for each other. Some things are bigger challenges than others. There are stressful events and times, but mostly we just carry on with life and do not obsess over things we cannot control.

The Familial MPN study is still underway. We are looking forward to seeing what is learned.

I do think some folks experience a sense of guilt when thinking about having passed along a genetic problem , but I do not look at it that way. I do feel guilt for mistakes I have made and things I can control. I have plenty of mistakes to feel regret for; however, having my children was not a mistake. They are blessings and they have enriched my life beyond measure. Whatever challenges we may face, genetic or otherwise, we will face them together. I hope those who worry about this issue can let go of the worry, realizing there are some things we just cannot control. Best to focus on what we do control and let go of the rest.

Jennytheb
Jennytheb in reply to hunter5582

Another very helpful and informative post from you hunter, thanks.

I think the answer is that research continues as no one is sure! I am taking part in a familial study being undertaken in Oxford (UK) as I have PV and my daughter has ET, both JAK2+. The closest I can get is that it is possible to inherit a ‘tendency’ to MPNs.

Hi Irishgal, , it's a good question you ask and for all the right reasons too. My response won't allay your fears I dare say but I think worth contributing though I find Hunters explanation helpful.

When I was diagnosed with PMF , after getting over the initial shock, one of the first questions I asked my Consultant at the time was if it was hereditary in any way. He adamantly replied No it was simply bad luck. I wasn't sure about that and remained unconvinced because my poor Mum passed from Myeloma and her Mum from a type of Leukemia (unknown) and one of our relatives on my Mum's side also had a type of Leukemia. Seems too much of a coincidence to me.

My sister has always had higher than average platelets 5-600 but as they've remained stable they've never been seen as an issue so isn't on any treatment.

As you might imagine I worry about my son and his children and hope that I'm the last one of our family line to have had "bad luck" in the blood department.

I think this question has been debated before on the Forum so it might be worth searching to see if there's anything there which might be of value.

I hope you're able to put your mind at rest and there will be a cure or much improved treatments in the future.

Regards - Chris

Aneliv9
Aneliv9 in reply to JediReject

Do you believe that chances are that there will be a cure?? I am really interested in your answer 😊

JediReject
JediReject in reply to Aneliv9

Hi Aneliv, , my outlook is generally positive so I'm sure that cures will be found for many diseases as science through technology enhances our knowledge. There are many ways it might go in my view. For instance rogue genes such as Jak 2 could be eradicated through genetic engineering, not popular but the world is changing. Or at least identified and neutered in some way before they are triggered. This sounds futuristic and it may well be a couple of generations away.

The mad professor in me thinks that we will evolve eventually interacting with technology somehow but it won't be in our lifetimes.

In the shorter term I'm very hopeful that research will develp new inhibitors and alternative traetments to keep folk going though these might not be curative.

And in my own case of having a SCT to cure my MF the main players are constantly gathering data, reviewing, enhancing their procedures , honing their techniques to minimise the risks posed by the Transplant process and the GVHD.

I tried to stay on the drug route as long as I safely could and would still be on it if an alternative to Ruxolitinib had come in time for me. I banked on my chances improving the longer I held off. In spite of this mine was touch and go 5 years ago.

So I think there's good reason to be optimistic about what lies ahead especially if you are unfortunate enough to be a younger bod.

Regards - Chris

Aneliv9
Aneliv9 in reply to JediReject

Thank you very much for your time and answer. Unfortunately, I am 37 years old with ET and so worried about progression.. so let's just hope that something will be on the horizon for us..

JediReject
JediReject in reply to Aneliv9

It's understandable you are worried and perhaps anxious about what may or may not happen in terms of your ET progressing and I have no wish to devalue how you feel about it. However I spent several years after my diagnosis age 45 stressing and worrying about my condition that it consumed my enjoyment of that time when essentially they were my better or good years and I should have been living life to the full.

It was only a few years in after I'd accepted my lot that I did that but then of course my MF had grown with me and I didn't have the energy levels and wasn't as physically able.

Please try to avoid the trap I fell into.

Chris

Aneliv9
Aneliv9 in reply to JediReject

Thank you very much.. This is what exactly i TRY VERY HARD to do: Thinking that NOW i am ok and at any moment, i could have had a different diagnosis (even something more accute than MF) and then i would have lost my good days also.

But i find this also be very sad way of thinking and i fight constantly with depression and despair..

JediReject
JediReject in reply to Aneliv9

Im sorry you feel this way. . Yes its very hard to put to push to the back of your mind. What helped me in the early days was seeing the clinical psycologist at my local hospital as I could talk openly with her about my hang ups and she encouraged me to look at things in a more positive light,

It's not for everyone but I found it useful. And sometimes you can't deal with it all on your own.

Good Luck going forward

Chris

Thank u x

I think so...my father had the same symptoms as I have. I havn't told my children what I believe is the case because it is not a burden they need at thia point in time, and nothing really can be done about it. My daughter has had minor gout-like symptoms which is unheard of in women who have not not reached menopause. Which could indicate she is a future MPN sufferer.

hunter5582
hunter5582 in reply to Uzza

I am not sure I would agree that there is nothing that can be done about it. We do not know yet what triggers the mutation that causes the MPN to become active. However, we do know that many cancers are triggered by toxins, contaminants in the food chain, exposure to radiation, certain diets, etc. While it is true for everyone, lifestyle choices for those who may be vulnerable to something like a MPN are very important. For those of us who have a MPN, those lifestyle choices are more important than ever, both to manage the MPN and prevent the risk of secondary cancers to which we are prone.

Are we prone to secondary cancers

Uzza
Uzza in reply to hunter5582

In terms of treatment of early onset there is not much to be done. Is it better to raise the issue in an already high stress context or let sleeping dogs lie. Her uric acid levels are managed by a low meat and almost vegetarian lifestyle. Her Dr knows I have an MPN.

hunter5582
hunter5582 in reply to Uzza

It is a judgement call. There is not a right or wrong answer. As parents we want to protect our children even when they are adults. Sometimes this is a good thing. Sometimes it is not. I do not know your daughter nor what her situation is. I would not presume to say what you should or should not do. Some questions to think about would be. 1. If your Mom had a MPN, would you want her to tell you? 2. If your Mom had a MPN and you did not find out until the disease had progressed, how would you feel about your Mom not telling you? Would you appreciate that she was protecting you when you needed it or feel like she did not believe that you could handle the information? 3. Does your daughter have a need to know about your MPN? 4. Would she have a desire to know?

I am glad to hear that she is monitoring her diet to manage the uric acid levels and that she is being followed by a doc who knows what is going on. Perhaps the question you are asking has less to do with your daughter managing her own medical care and more to do with the impact on your relationship with your daughter if you do or do not tell her about the MPN. You are the best judge of what matters and what to disclose.

Hi Hunter5582,

Hope you don’t mind me replying here. It’s just that I’ve had exactly that experience - my Mum was dx with PV in 1999. My twin sister and I were 19 at the time. When she progressed to MF 4 years later, neither she nor my Dad told my sister or me. I found out about her progression a couple of years later, after seeing one of her hospital letters which was lying around.

I understood my parents were trying to protect us, but I also felt gutted they hadn’t told me before. I was an adult, and wanted to support them as best I could.

A continued lack of knowledge about familial MPNs in both medical and patient cohorts doesn’t help us familial MPN patients. Because of exactly this, my own MPN dx took nearly 4 years. I’m really glad I knew about my Mum’s illnesses, both then and now. Knowing what she was undergoing helped me support her better, and I’m better informed on MPNs than some of my drs.

MPN information is my best tool in my own healthcare kit; it demystifies my illness/es, makes me equipped to make informed decisions about my therapies, and this in turn helps my family support me better.

It’s obviously a very personal decision; I just wanted to share my own experience of being in this very unusual situation.

All best,

Lucy

Uzza
Uzza in reply to LucyGeering

My kids know what I have and are fully aware what MPNs are.

Aneliv9
Aneliv9 in reply to Uzza

What aren gout-like symptoms??

Uzza
Uzza in reply to Aneliv9

High uric acid levels and very painful joints( mostly lower joints: knees, ankles, feet and toes). There is also a general feeling of being unwell.

The short answer is yes.

The longer 2-part answer is: 1 - certain medications used to treat MPNs increase the risk of secondary cancers. 2 - Deregulation of the JAK-STAT pathway increases the risk of tumorigenesis and interferes with apoptosis. Hence the "Neoplasm" part of why it is called a MPN. It may not always be clear why a MPNer develops one of the more common secondary cancers like a carcinoma. Do be careful with that "common word" though. Most of us will not develop a secondary cancer, we are just at increased risk.

There is a fair bit of literature on this topic. Here are two examples.

ashclinicalnews.org/news/li...

ashpublications.org/blood/a...

I recently addressed this specific question with the MPN Specialist I consult with. The recommendation is that we just need to be mindful of our risk and actively engage in the routine screening and monitoring that we should be doing anyway. Specifically: screening for prostate, colorectal, and breast cancers. And, of course, being alert to skin and lung cancer risk.

To me the biggest deal is that we need to control the things we can control. We can reduce our risks through the choices we make. We need to avoid exposure to known carcinogens, actively engage in routine monitoring, protect ourselves from excessive expose to UV rays, and for heavens sake - do not use tobacco. Eating a healthy Med-style/heavily plant-based diet is in our best interests. Working to control chronic inflammation will also reduce cancer risk as well as just make us feel better.

So the long answer is that while we are at increased risk for secondary cancers, we are not powerless to do anything about it. The lifestyle choices we make have just as much impact on our risk as the MPN-driver mutation does. We must be more motivated to choose wisely.

Dovme
Dovme in reply to hunter5582

It’s worth also remembering that regardless of MPNs Cancer is the second leading cause of death globally, and is responsible for an estimated 9.6 million deaths in 2018. Globally, about 1 in 6 deaths is due to cancer. From WHO This is not counting the millions who live with cancer or who have recovered or gone into remission There is a huge investment in finding treatments research, promoting and improving lifestyle choices and much to remain positive about

“Familial” MPNs are so rare that most medics genuinely don’t know about them (medics usually don’t know much about MPNs as it is). If you have no other history of MPN or blood cancers in your family then it’s highly unlikely yours is familial.

My aunt had Lukemia but specialist said not related

Hi Irishgal12,

My consultant said that he thought ET was not hereditary.

My maternal Grandmother died of Leukaemia, my mother and brother had/have Idiopathic Thrombocytopenia, so our family just has interesting bone marrow!

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