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| My CALR test bruise is a beaut! I learned that an ice pack will take down swelling and relieve discoloration quicker. Also that it's really hard to take a photo of your own arm with a tablet. |
Anyhow, today, the results are in, and I am now officially in the CALR group of patients with ET, specifically CALR exon 9, which I realize, sounds like something Scotty would need to add to the dilithium cyrstals in order to move the U.S.S. Enterprise into warp speed.
There was also a whole lot of blah blah about the test on the results I got that I will ask my GP to translate when I see her for my regular check-up in a few weeks. Since my treatment (a baby aspirin every day) is not likely to change, I'm not going to try to get past the army of schedulers to see Dr. Blood about this before next year's appointment.
The good news about being CALR-positive is that recent studies indicate that CALR-ET does not morph into polycythemia vera (PCV), another type of MPN with more serious symptoms. Also good news is that there is less spleen enlargement in CALR patients, a side effect of the disease that can be very uncomfortable. CALR-positives also have less of a tendency to develop clots, even though our platelets run higher than those with JAK2.
Anyhoo, now I'm busy relearning all the info I amassed in the past year about CALR-related ET. IMPORTANT CAVEAT: The CALR mutation and its link to ET has only been known for a few years. So saying anything definitive about it is impossible. However, short-term studies show the following:
The good news about being CALR-positive is that recent studies indicate that CALR-ET does not morph into polycythemia vera (PCV), another type of MPN with more serious symptoms. Also good news is that there is less spleen enlargement in CALR patients, a side effect of the disease that can be very uncomfortable. CALR-positives also have less of a tendency to develop clots, even though our platelets run higher than those with JAK2.
But there's a down side to the CALR mutation when it comes to disease progression. Women with the CALR mutation have a one in four chance of developing myelofibrosis (MF), which is the most serious type of MPN. While CALR-positive women's chances for developing acute myeloid leukemia (AML) are still relatively low, 3 percent, that is higher than the 0.8 percent for women with the JAK2 mutation.
More interesting factoids from the Mayo Clinic's page on CALR:
- CALR exon 9 is "mutually exclusive" with JAK2 and MPL mutations. That means that you can't have CALR and JAK2 or MPL. There's a relief.
- CALR exon 9 is also a "somatic mutation," meaning one that developed after birth. It is not a "germinal" mutation that was passed on by one's parents. However, that doesn't mean that some predisposition to the CALR mutation isn't inherited, so that's something researchers will have to unravel.
- Because of the reduced clot risk for CALR patients, those with ET or MF may have a better survival rate.
- Platelet reduction therapy may not be helpful in reducing clot risks for CALR patients, and may actually cause bleeding. So I will be seeking second opinions if Dr. Blood recommends hydroxyurea (Hydrea) at some point down the road.
Meantime, I'll keep trying to point you all to all info I get about ET as it develops, regardless of mutation.
Be well!
Related: JAK2 or CALR?
Hi Jean, I am also CALR positive. I'm 51 years old and have had ET for 5 years. I treat with a hematologist in Boston. I am not on any medication and my platelets are 1.3 million. I went to Mayo Clinic in Rochester, MN for a second opinion to see Dr Ayalew Tefferri who a leading expert with MPNs He is of the opinion that if you are not having a problem (i.e. no prior clot or bleeding, or no major symptoms you should not be on medication. He really put my mind at ease and said I am at very low risk for a clot. He said my platelets are likely to go to 2 mil (platelets tend to go higher with CALR mutation). I also am not taking aspirin because I have developed acquired von willebrands which makes blood thinner. Oftentimes, as platelets go up the von willebrands factors come down making blood thinner. Dr. Tefferri also agreed that I should not be on aspirin. Have you had any of the Von willebrand tests?
ReplyDeleteThanks for writing! No have not been test for vonWillebrands, but will put on my list.I appreciate those reporting in from Mayo. Many of us do not have the means/insurance coverage to get a second opinion there, so always good info to share. My current hemo-onco is plugged into Mayo's MPN database, so am hoping she will be alert to some of the differences between JAK2 and CALR. My dad, who had ET (mutation unknown) had bleeds on hydroxyurea, and it didn't take his platelets down. He did, however, have deep vein thrombosis, and also took coumadin. He also had some spleen or liver enlargement. He died before much was known about ET.
DeleteThanks for the information. I'm a 39 year old female and finally received my confirmed diagnosis of Calr positive ET yesterday after more than 12 years of thrombocytosis without a definite diagnosis. I found your statistic about ET transforming into myelofibrosis in 1 in 4 women with the Calr mutation interesting. I am concerned that my ET is transforming because when I started this journey many years ago I had a high hematocrit and that has finally evolved into anemia. And my platelet levels are suddenly increasing after many years of remaining constant. When I asked my hematologist about it I got the blow off but maybe he likes to sugar coat things. Luckily, I read CBC differentials at my job and have a microscope at home so I can monitor my own blood. I discovered my myeloproliferative disorder by myself anyway when I decided to look at my blood under the microscope for the first time many years ago. The appearance of my platelets changed a few months ago when I noticed they were a lot more immature than usual with many giant forms. This is why I believe my disease may be going into second gear. Unfortunately, like you said, the Calr mutation is a fairly new discovery and not much is known. I found your page in my quest for knowledge and I appreciate it. May you have a happy and healthy new year!
DeleteWow! You are the first person I've ever known who does your own blood tests. As health care gets more expensive, maybe we should all be doing it! Except I would probably be checking my counts every day and scaring the crap out of myself.
DeleteYes, CALR opens a whole new world of unknown variables for those of us with ET. I get bruising really easily from the aspirin therapy, and there have been times (like right after that photo was taken, that I went off the ASA for a few days. I also have petechiaea (little red dot freckles), which is something older women get as skin thins. Bothe chemo and GP told me to take the aspirin anyway. M'okay. I hope they know what they're doing.
FWIW, the megakaryocytes (aka enlarged platelets) do occur with plain old ET; one of my blood tests noted that I had some, but everything else has been normal and my platelet counts are stable. However, I think you are right to be alert to changes, especially anemia. And ten years after onset seems to be a point around which many ET patients start to see changes, if not progression, in their disease.
A bone marrow biopsy seems to be the definitive test for all MPNs. I didn't find the procedure terrible, so you might ask for one to find out what's going on in the "blood factory." That would tell you whether you have morphed to MF ... or whether your ET is doing something new and exciting.
I would not recommend that do the biopsy yourself at home! :-)
Good to hear from you, and let us know what you find out! --Jean
Haha! I work in a veterinarian oncology practice so I do have access to bone marrow biopsy needles... I just don't know if I can get to my own hip and I definitely don't want to do it in my breastbone! I kid, of course. ;) I did have a bone marrow biopsy 10 years ago and it didn't give me a definite diagnosis. I have to admit I have had enough experiences with doctors that just do not care that I just let the issue go and would monitor it myself. In the past when I looked at my blood most of my platelets were the normal tiny ones with a few gigantic ones. But now more than half of them are immature and I have even found the rare megakaryocyte. After reading CBC differentials on veterinary cancer patients for more than 10 years I can tell you finding a megakaryocyte on a peripheral blood smear is a very rare finding...I am a huge cell nerd and it was a very exciting find! I know large/gigantic platelets are normal in ET..But I guess it was the sudden change in the appearance of mine that concerned me. A couple months ago I visited the Dr for a separate issue and asked her to run some bloodwork. I did not tell her about the platelet situation I noticed at home. When the CBC results came back with the platelets elevated she tried to blame it on an infection. I knew better but I kept my mouth shut. She said to repeat the test in a month. A month later the platelets, of course, still high and she sends me to the hematologist without the knowledge of knowing that I had ever seen one before. The hematologist doesn't seem to think I need another BMA because he said it wouldn't change the course of treatment. He said he would do it if I wanted. I decided against it temporarily just because I know he is correct and even if it is transforming that doesn't mean treatment would be initiated immediately anyway. If I wasn't able to monitor my own blood I probably would do the biopsy just for my own knowledge. He said he doesn't treat ET until platelets are over 1.5 million, age 65, or if I throw a clot. And that is fine with me so for now I take only the aspirin. Although it would have been nice if he admitted that the sudden anemia could be indicating a disease progression instead of dismissing me with a wave of his hand when I asked him about it. I have to say, you have done your research and I have spent the past hour or so reading your blog entries and I am impressed! It took a fair amount of digging in Google to find your page but I am glad I did and I hope you continue to keep us updated on your ET and continue to do good by promoting education of a disease that many people do not know exists!
ReplyDeleteThis is really fascinating. It tells me what Imhear from ET patients all the time that a) doctors are all over the map when it comes to when they start chemo and b) many hemos wait for life threatening bleeds and clots before they take action. (It also confirms my suspicion that those in vet medicine are better doctors; a friend in vet school diagnosed my heart valve problem 10 years before my doctors did.) Many hemos also persist in seeing MPNs as "benign" conditions. I live in the U.S., and my sense from talking to people around the world is that hemos in other countries follow more uniform protocols. I have no hard numbers to back this up, and that's not to say their protocols are better. We're all guinea pigs to some extent for a disease that is still mysterious.
DeleteI make every effort to find good info in medical journals and from MPN researchers. I used to be a reporter, and I am picky about sources. I am glad it passes muster with someone who has a biology background.
I also find it confusing as to why we must wait for a life threatening crisis before treatment is initiated. Debilitating stroke or amputation scares me more than death. In the veterinary field our patients can't talk so sometimes it makes the job more difficult than human medicine. I can confirm that the patients in the hospital I work at receive much better medical care than I have ever received.
ReplyDeleteAnimals get myeloproliferative disorders too and I have to admit a cat that we recently saw for polycythemia vera was prescribed hydroxyurea and it lost its mind. It became very aggressive and bit the owner several times sending her to the hospital for IV antibiotics. The cat just didn't seem to be right in the head after the hydroxyurea and it certainly made an impression on me. I have also seen the serious consequences of dogs with polycythemia...One of them developing uncontrollable seizures and then entering into a coma for a week before finally waking up and then it lived for a few more weeks before passing. One of the emergency doctors came and asked one of our internists an interesting question the other day. She had a canine patient who came in for extreme lethargy but the only thing she could find in her diagnostics was thrombocytosis. She asked our doctor if thrombocytosis could cause such extreme lethargy. I wanted to scream yes! But I couldn't and he quickly dismissed her suspicion and said it was not likely. ET doesn't get the respect of the other myeloproliferative disorders.
It's interesting that your friend diagnosed you before your own doctor. Did you ever mention it to your doctor or were you worried about what his response would be that a veterinary student diagnosed you first?
I never mentioned the heart thing to my doc, just waited to see if he would get it. He retired and his replacement asked, "Has anyone ever told you you have mitral valve regurgitation?" I said, "Yes, a vet student." She said she wasn't surprised, as vets are very good at listening for murmurs. Really common in dogs and elderly cats.
DeleteAnd it was a nurse who noticed the high platelets and bugged the doc to investigate more.
My hemo keeps telling me ET is asymptomatic. So I don't mention it any more.
Doing circulatory exercises in hands and feet may help stave off ischemia. Hope so!
Asymptomatic...Yeah right. I've experienced the visual disturbances and I'm glad you mentioned the circulatory exercises. I will have to investigate that because for the past few weeks I have been experiencing painfully cold hands and feet. I slept with socks on for the first time the other night and I NEVER do that. But the pain is from deep within. Hard to explain. Although come to think of that I am not sure if that is in response to the anemia or thrombocytosis, or both.
ReplyDeleteAnd that was a good nurse who warned you.