It has been 1 year since I joined this wonderful forum. This is a great place. Thank you all.
I need help deciding what to do moving forward.
I am a 30 year-old father of two small children. One year ago (Jan 2021), at my first GP appt in 10 years, my CBC showed platelets at 437. My GP asked if I had ever had high platelets before, so I checked my past CBCs. In 2008 (age 17) my platelets showed 380. In 2011 (age 20), my platelets shows 455, 462. None of my past doctors questioned it.
My GP referred me to hematology, where he (not an MPN specialist) told me “I think you have ET”. He tested my counts, came up 495 (A little high, I was under severe stress from the situation). I then found an MPN specialist to take over my care, and he tested me for JAK2, CALR, and MPL, all negative. Blood smears showed elevated platelets with normal size and shape, no clumps. He also tested my blood a few more times. At this point, all my CBCs are the following:
2008 (age 17) - 380
2011 (age 20) - 455, 462
2021 (age 30), 437, 495, 442, 429, 408
2022 - 470
The MPN specialist says that because my genetic tests for the 3 mutations all came back negative, along with the fact that my counts are only over the 450 line half the time, that a BMB is not strictly necessary and that no further workup is needed at this time.
I am concerned I am undiagnosed ET.
Main reasons for my concern:
1) half my counts are over 450, dating back 10 years
2) The limit of detection (LOD) on the CALR and MPL tests he did were not that great. CALR LOD 6% allele burden, MPL LOD 20% allele burden, meaning that any allele burden below those values would be a false-negative. I’ve seen several people on this forum with allele burdens for CALR below 6% and MPL below 20%. The only test I am confident in is the JAK2, which was negative with a LOD of 0.1% allele burden.
The way I see it, I could still be triple-negative ET, or have CALR or MPL with low allele burden.
Considering all this, especially my counts and tests, should I let this go, or pursue it further? I’ve been down this road for a year now. I need to either drop this, or ask for further testing.
What would you do?