Essential Thrombocythemia: Looking for information and support

Posted by shenriq @shenriq, Jun 4, 2018

I was recently diagnosed with Essential Thrombocythemia, a rare incurable blood cancer. Platelet count aside, I am asymptotic. This current condition morphed from (constitutional) thrombcytosis, something I’ve lived with for 25+ years. While the new diagnosis was the result of a bone marrow aspiration and biopsy, my age was an additional factor, which was completely disarming, having been walking around unwittingly for the past 8 years! While at the low end of risk for clots, heart-attacks and stroke, nothing has truly changed - except the “C” word. No chemo yet, but active discussion about hydroxyurea. Uncertainty about ET is anxiety provoking and swoethatl, but I’m feeling betrayed by my blood. I’m looking for all information about ET, the chemo and support.
Thanks!

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@cindy7

I’m new to this group and appreciate reading both the new and older posts.
The first time I was aware of an elevated platelet count was in 1989 after lab work during a prenatal visit. My Ob/GYN called and asked me to come back for another blood draw He wanted to rule out leukemia. After the second blood draw, he advised that nothing else flagged, and this was probably my “normal”.
In the years that followed, I never gave it a second thought. When I had blood draws for routine health visits, my platelet count was always in the low to mid 400’s. I wonder why my general practitioner did not alert to those numbers?
Fast forward to 2016…I started a weight management program that was led by a young doctor within my medical group. (Interestingly, she is also an OB/GYN.) As part of the program, she asked all participants to complete a very comprehensive lab work-up. After reviewing the results with me, she looked very serious and wanted to add a blood smear to my tests.
That’s when I received the news, ET. How many years have I had this and no one else connected the dots?
I was referred to a hematologist at the Mayo in Rochester, MN. The bone marrow biopsy confirmed ET with JAK-2 mutation. Like most of you, I was shaken with anxiety and worry. Knowledge is my way of dealing with it. I read every medical article related to MFP published in past 8 years to educate myself. Additionally, I learned that women with ET have a higher incidence of miscarriage. Checked that box 6 times! Did anyone else experience similar problems? Now, I realize how fortunate I am to have given birth to two healthy, wonderful children.
For the next 2 years, I added a low dose aspirin to my daily routine and had the platelet count checked every 3 months. The numbers stayed between 450-470. Since it was stable, I opted to only have the blood draws 1x/yr.
Just recently, the count increased to 570, so I’m scheduling an appt again at Mayo for a review and medical advice. If anyone is willing to share names/locations of your expert medical providers, I would be interested to hear. I always like to keep a second name “in my back pocket” should my specialist relocate or retire.

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Yes, two miscarriages in my late 30s. Had bleeding and progesterone treatment with third pregnancy, which I brought to term at 41. Very heavy periods all my life. Was not diagnosed with ET-CALR until age 60, but research suggests that the mutation can occur decades before the blood platelets rise. That started in my 50s.

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@cindy7

I’m new to this group and appreciate reading both the new and older posts.
The first time I was aware of an elevated platelet count was in 1989 after lab work during a prenatal visit. My Ob/GYN called and asked me to come back for another blood draw He wanted to rule out leukemia. After the second blood draw, he advised that nothing else flagged, and this was probably my “normal”.
In the years that followed, I never gave it a second thought. When I had blood draws for routine health visits, my platelet count was always in the low to mid 400’s. I wonder why my general practitioner did not alert to those numbers?
Fast forward to 2016…I started a weight management program that was led by a young doctor within my medical group. (Interestingly, she is also an OB/GYN.) As part of the program, she asked all participants to complete a very comprehensive lab work-up. After reviewing the results with me, she looked very serious and wanted to add a blood smear to my tests.
That’s when I received the news, ET. How many years have I had this and no one else connected the dots?
I was referred to a hematologist at the Mayo in Rochester, MN. The bone marrow biopsy confirmed ET with JAK-2 mutation. Like most of you, I was shaken with anxiety and worry. Knowledge is my way of dealing with it. I read every medical article related to MFP published in past 8 years to educate myself. Additionally, I learned that women with ET have a higher incidence of miscarriage. Checked that box 6 times! Did anyone else experience similar problems? Now, I realize how fortunate I am to have given birth to two healthy, wonderful children.
For the next 2 years, I added a low dose aspirin to my daily routine and had the platelet count checked every 3 months. The numbers stayed between 450-470. Since it was stable, I opted to only have the blood draws 1x/yr.
Just recently, the count increased to 570, so I’m scheduling an appt again at Mayo for a review and medical advice. If anyone is willing to share names/locations of your expert medical providers, I would be interested to hear. I always like to keep a second name “in my back pocket” should my specialist relocate or retire.

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Most of us will be our PCPs first (and only) ET patient. Doctors just aren't tuned into the significance of elevated platelets. My own PCP, an experienced and caring man, "informed" me my platelet count was high because I made Red Cross blood donations every 8 weeks.

Of course this wasn't true. But it took me 3 years to start questioning him. I live in rural VA and am lucky there's a hematologist/oncologist (Dr Raymond Cruz) just 60 miles away.

It's essential to keep pushing until you find the best help you can get.

Bravo on making that Mayo appointment. Fingers crossed you'll get backup referrals too. You live in MN, right?

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I’m new to this group and appreciate reading both the new and older posts.
The first time I was aware of an elevated platelet count was in 1989 after lab work during a prenatal visit. My Ob/GYN called and asked me to come back for another blood draw He wanted to rule out leukemia. After the second blood draw, he advised that nothing else flagged, and this was probably my “normal”.
In the years that followed, I never gave it a second thought. When I had blood draws for routine health visits, my platelet count was always in the low to mid 400’s. I wonder why my general practitioner did not alert to those numbers?
Fast forward to 2016…I started a weight management program that was led by a young doctor within my medical group. (Interestingly, she is also an OB/GYN.) As part of the program, she asked all participants to complete a very comprehensive lab work-up. After reviewing the results with me, she looked very serious and wanted to add a blood smear to my tests.
That’s when I received the news, ET. How many years have I had this and no one else connected the dots?
I was referred to a hematologist at the Mayo in Rochester, MN. The bone marrow biopsy confirmed ET with JAK-2 mutation. Like most of you, I was shaken with anxiety and worry. Knowledge is my way of dealing with it. I read every medical article related to MFP published in past 8 years to educate myself. Additionally, I learned that women with ET have a higher incidence of miscarriage. Checked that box 6 times! Did anyone else experience similar problems? Now, I realize how fortunate I am to have given birth to two healthy, wonderful children.
For the next 2 years, I added a low dose aspirin to my daily routine and had the platelet count checked every 3 months. The numbers stayed between 450-470. Since it was stable, I opted to only have the blood draws 1x/yr.
Just recently, the count increased to 570, so I’m scheduling an appt again at Mayo for a review and medical advice. If anyone is willing to share names/locations of your expert medical providers, I would be interested to hear. I always like to keep a second name “in my back pocket” should my specialist relocate or retire.

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@shenriq

No longer taking AI drugs or actively dealing with my breast issues. Additionally, there’s no connection between the Breast concerns and my newly diagnosed (EI) blood cancer.

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May I ask what the term AI drugs means?
Thank you, Eileen

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@esperanzam

I was diagnosed right away with Essential Thrombocythemia. (ET) having 1,250,000 platelets when first diagnosed. I had the Bone Marrow Biopsy and comfirmed JAK 2 so I guess if it is confirmed that gene mutation and no other disease caused it, it is ET. That is my understanding. But I could be wrong. Seems from what I have read that if another disease causes the over production of platelets, it might be possible to reverse it or stop the proliferation of the platelets, but with ET it is not curable, only treatable.

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Also, I might add that a few years ago they thought it may have morphed into Myelofibrosis since I had so much pain in my legs but that was ruled out at least for now with another Bone Marrow Biopsy. I had Back problems and hips wee deteriorated. It is hard to say whether the Hydroxyurea hastened the bone deterioration. No one has definitive answers for a lot of my questions but I had both hips replaced and a laminectomy and fusion of L 4-5 back surgery and it has helped the leg pain. I have been on the Hydrea for 9 years in May. I take the usual 2 daily with 3 taken on three days a week. Otherwise my platelets creep up. My oncologist has come up with this dosage plan and it seems to work to keep my platelets about 500-600
which they say for me seems to do the job. They keep an eye on the Red Cells and White Cells as well which stay borderline low due to the Hydrea affecting all three. I am not in favor of switching to the alternative treatment Anagrelide as it is way more expensive and I have heard from others that have had too many side effects. As long as the Hydrea is advised, is working and not interfering too much with the Red and White cell production I will continue on it. But I am aware that there are problems with all of it. My age (73) and other conditions are also factors I have to consider.

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@sudutoo

My DNA was not done with bone marrow, just blood work, I think out of Florida. It has been since about 2011 without being clarified as ET or reactive, although I have not asked; just trusting the medical community. I would agree that if the reactive cause has not been found/cured since 2011, it is probably ET, but I do agree with you that this could be "wrong." It is interesting, as I have found in this service of Mayo Clinic, that thrombocytosis is sometimes considered a cancer by insurance companies, especially as they treat it with cancer drugs. I hope that I do not develop leukemia nor fibrosis of the marrow. I suppose that I could be considered an alcoholic which could be causing the elevated plateletes, but surely there would be a biological/social proof of that by now, other than the platelet count?

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Definitely ET, as per nurse today. Am finding out whether are blood clotting factors.

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My DNA was not done with bone marrow, just blood work, I think out of Florida. It has been since about 2011 without being clarified as ET or reactive, although I have not asked; just trusting the medical community. I would agree that if the reactive cause has not been found/cured since 2011, it is probably ET, but I do agree with you that this could be "wrong." It is interesting, as I have found in this service of Mayo Clinic, that thrombocytosis is sometimes considered a cancer by insurance companies, especially as they treat it with cancer drugs. I hope that I do not develop leukemia nor fibrosis of the marrow. I suppose that I could be considered an alcoholic which could be causing the elevated plateletes, but surely there would be a biological/social proof of that by now, other than the platelet count?

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@sudutoo

I have read somewhere that HU may actually increase the risk of leukemia by a slight degree? Possibly because they use it on patients with JAK? I have been on HU since early 2011 (?) and the Dr. several months ago desired to know if my liver was inflaming; before it has just been about my lymph nodes and ease of bruising. How many years of thrombocytosis does it take before they say that one has ET (no underlying infection nor cancer found)?

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I was diagnosed right away with Essential Thrombocythemia. (ET) having 1,250,000 platelets when first diagnosed. I had the Bone Marrow Biopsy and comfirmed JAK 2 so I guess if it is confirmed that gene mutation and no other disease caused it, it is ET. That is my understanding. But I could be wrong. Seems from what I have read that if another disease causes the over production of platelets, it might be possible to reverse it or stop the proliferation of the platelets, but with ET it is not curable, only treatable.

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I agree about lack of empathy. My sister doesn't seem to understand about how this could progress to something worse. I've only told a few friends about my ET and daily chemo.

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@sudutoo

I have read somewhere that HU may actually increase the risk of leukemia by a slight degree? Possibly because they use it on patients with JAK? I have been on HU since early 2011 (?) and the Dr. several months ago desired to know if my liver was inflaming; before it has just been about my lymph nodes and ease of bruising. How many years of thrombocytosis does it take before they say that one has ET (no underlying infection nor cancer found)?

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Good morning, @sudutoo. I hope you have your reading glasses on! You have a lot of questions about essential thrombocythemia and thrombocytosis so I thought I’d drop a load of reading material out here for you.

Throughout my acute myeloid leukemia and bone marrow transplant journey 5 years ago, I became fascinated with blood cancers and blood conditions. I’ve learned first hand about the intricacies of our blood, bone marrow and immune systems, how mutations of genes work to mess with the order of things! We’re so incredibly complicated, it’s mind boggling that we even stay alive…just one little random mutation in the DNA and it can change the course of someone’s life.

You were diagnosed several years ago with thrombocytosis and wondering if this changes to ET.
In a large nutshell, Thrombocytosis occurs when another disease or condition causes you to have a high platelet count.

Thrombocythemia occurs when faulty cells in your bone marrow make too many platelets. Thrombocythemia is most often caused by your genes. Mutations or changes in the genes that control how your bone marrow forms platelets may cause thrombocythemia. Examples of such genes include JAK2, CALR, and MPL.

I believe you mentioned in one of your posts that you have a mutation in the JAK2 gene. That can be a key factor in the development of ET, PV (polycythemia vera) or MPF (myelofibrosis). Those are part of a group of blood conditions referred to as myeloproliferative neoplasms or disorders.

A good article from, verywellhealth.com explains the involvement of the mutated JAK2 gene in the potential development of these conditons:
https://www.verywellhealth.com/jak2-mutation-5217909
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Because of your elevated platelet count, your doctor suggested taking HU and that’s been successfully treating your condition since 2011. That sounds like a good track record! Sometimes we have to weigh the overall risk/reward benefit of taking meds that have potential side effects to keep us healthy and able to enjoy our lives to the fullest. While I’ve seen the reference to HU/leukemia link there seems to be no confirming evidence. Having an myeloproliferative disease has that remote, but underlying capability on its own without involvement of HU.

You might be interested in one of the articles in my list regarding HU and no evidence of it causing leukemia.
From The Hematologist by Ash Publications, Hydroxyurea's Leukemogenicity in Myeloproliferative Neoplasms: A Not Guilty Verdict https://ashpublications.org/thehematologist/article/doi/10.1182/hem.V8.6.1218/462498/Hydroxyurea-s-Leukemogenicity-in#

These last 5 articles all discuss thrombocytosis and essential thrombocythemia. I’m hoping by reading through these that you’ll better understand your blood condition of elevated white blood cells.

.
https://www.mayoclinic.org/diseases-conditions/thrombocytosis/symptoms-causes/syc-20378315

https://www.healthline.com/health/primary-thrombocythemia
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https://www.verywellhealth.com/essential-thrombocythemia-2860907#:~:text=Essential%20thrombocythemia%20is%20a%20rare%20blood%20cancer%20that,potentially%20life-threatening%20complications%20like%20heart%20attack%20or%20stroke.
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https://www.medlink.com/handouts/essential-thrombocythemia#
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https://www.healthgrades.com/right-care/blood-conditions/essential-thrombocythemia

I know this is a long list for you to work through so take your time and take notes! Let me know if this was helpful for you!

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