I’m beyond frustrated. Basically was told to come back in a year. But to also go back to primary care doctor to further investigate the high platelets and high ferritin levels. I only had 2 variants show positive; ASXL1 and TP53. The report shows both of those as benign or likely benign. The rest of the gene mutation testing was negative. My WBC count was normal but absolute neutrophils were slightly elevated. Platelets were still high but not above 500. My BUN/Creatinine levels are slightly elevated lately as well as was my uric acid levels.
He said that 99.9% of MPN patients don’t have symptoms so the way I’m feeling has to be related to something else. He would not order a BMB either.
I just don’t know what else to do. I’ve been tested for autoimmune diseases, infections, etc. Nothing! He ruled out hereditary hemochromatosis as well. The high platelets and high ferritin have been chronically elevated for almost 4 years now.
Do I pursue an MPN specialist? Or just start over with my primary care doctor?
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Shellbi
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Not from the hematologist I saw today. He essentially dismissed me and said whatever is going on is not a blood disorder. My ferritin level is 448. The highest it should be is 150 for a female. My platelets are not extremely high but the last 3 have been 455, 460 and 474.
I don’t see any lab result for reticulocyte counts either.
Check Walk-in Labs for the blood tests you want that he won’t order. You can have them done yourself. I have the same issues and was similarly fobbed off.
I found out I have Factor V Leiden, a blood-clotting disorder which causes inflammation and elevates my platelets. Please get yourself checked. I had a pulmonary embolism as a result of not knowing sooner and getting on blood thinners.
Please get a 2nd opinion if you can or definitely push for a specialist and bmb. These mutations (benign possibly meaning you're susceptible for developing a cancer) can be indicative of a variety of blood disorders and predictive of cancer. All your test results will need to be evaluated to get a proper diagnosis.
Ferritin levels can also signify inflammation. The remark of 99% symptom free with MPN's is a load of rubbish and very misguided.
Stand your ground and do everything you can to get the answer.
Perhaps Maz can point you in the direction of an MPN specialist.
ASXL1 and TP53 are both know non-driver mutations associated with MPNs. Assuming that they checked you for JAK2, CALR and MPL as a matter of routine. So many docs do not know how to help with the more unusual presentations and do not provide appropriate referrals. Here is a list of patient-recommended MPN expert docs. mpnforum.com/list-hem/ . It is worth travelling to find someone who can help you if you need to. You deserve quality care from a doc who can help you.
Even if the report shows both the detected alterations for ASXL1 and TP53 as benign? I’m so confused since this was supposedly a MPN profile gene alteration test. Why would the report state that? Is it because this is something new?
I really don't understand why. Have you been tested for JAK2, CALR and MPL? MPNs can have unique presentations that can be very unusual. Definitely check with a true MPN specialist. This could be something else and the blood issues could be secondary. Sure hope you get some answers soon.
Thank you! I tested negative for JAK2, CALR and MPL and various others. The only 2 alterations showing positive were the ASXL1 and TP53. I called the one MPN specialist in San Antonio and they only see patients who are already diagnosed. I wouldn't be so frustrated and confused if the hematologist had even followed The Who guidelines, one of which is a bone marrow biopsy, to rule in or out an ET diagnosis. He would not order one and dismissed me saying come back in a year and also stating that MPN's don't have symptoms in 99.9% of patients!
So I called Dr. Ruben Mesa’s office in San Antonio. He’s a well known specialist in MPN’s. Well, they only see patients with an established diagnosis. So back to square one.
That sounds great Shellbi! Don’t stop until you get to the bottom of it! You are the patient, it’s your life. When you hear doctors neglecting symptoms or giving general answers, go. They don’t know enough and will probably never listen. Your relationship with your doctor is so important!! It took me 7 years to get diagnosed and I was treating all kinds of symptoms, endlessly with more chemicals that exacerbated my situation. Twice in an emergency room. Once Salzburg, once Switzerland. Still, no warning lights went off with my doctors, who are all friends of mine! Finally the third TIA. The biggest one. Dr. said, “It’s just your slipped disc” (neck). Went to ER. Was checked over by 5 different des in 6 hours. The symptoms were almost completely gone by then, except for massive brain fog. I finally asked for a blood test. I got it because the head doctor that was a friend of my husband’s! My husband was rolling his eyes, embarrassed. (Yayaya, I’ve had enough of her complaining). Blood test 823, 5 days later, 909! ET. My husband was shellshocked, more than me. The frustration is terrible for so many of us, Shelbie! Doctor Mark Hyman from the Cleveland Clinic (Functional Med. Dr.) said that you must become the CEO of “Save My Ass, Inc.” that’s who I am. I changed 5 hemos in 16 months. The 4th was pretty good, but the 5th was the one that I trust the most and I’m staying with her. I’m like Hunter and many others above. I research and read and listen to my body and we help each other.
When you get to this new doctor, make sure you have a clearly written list of all your symptoms. Make a chart of the most important blood factors so you and he/she can pinpoint developments quickly. It will make your visit smoother, especially since you are worried. Do not talk too much about the other doctors, that may be counterproductive.
I wish you clarity and a good start with this doctor! Let us know how it went! Anag🙂
Shellbi -- So glad to hear you found a specialist who may be able to give you the diagnosis you need. Keep pushing for what you need. It's difficult and frustrating beyond endurance sometimes, so keep coming back here for support and information as well. Best of luck to you.
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