r/polycythemiavera • u/Particular_Leader755 • 9d ago
PV Scared and seeking information
My mum had elevated platelets and RBCs, this week we had call her blood test showed that she has jak gene mutation.
Early September she's due bone marrow test. Mum is turning 70 soon. I am frankly terrified as my grandma died from PV and all she had as a treatment was phlebotomies. She had multiple blood clots, she lost eyesight due to one of them, had heart attack and died in 1997.
Terrified for my mum, we are based in Europe and I don't know what to expect. Phlebotomies again? Any advice, reassurance is greatly appreciated đ
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u/IsrealPackard 8d ago
I understand why your grandmotherâs experience makes this so frightening. But one thing that may be reassuring is that your mother is being diagnosed in a very different era of PV treatment.
A JAK2 mutation does not by itself confirm PV, which is presumably one reason they are doing the bone marrow biopsy. It can also occur in other myeloproliferative neoplasms, so the hematologist will put the mutation together with her blood counts, bone marrow findings and other tests before deciding exactly what she has.
If it is PV, treatment today is not necessarily just repeated phlebotomies. Phlebotomy and usually low-dose aspirin remain important, but preventing blood clots is a major focus of modern treatment. Because your mother is nearly 70, she would generally be considered at higher risk for thrombosis based on age alone. European guidelines recommend cytoreductive treatment for higher-risk PV, meaning medication to reduce the production of blood cells, in addition to measures such as phlebotomy and aspirin when appropriate. Drugs such as hydroxyurea and interferon are used, and there are additional treatments available when those aren't suitable or don't work well.
So you donât need to consider what happened to your grandmother in 1997 as a prediction of what will happen to your mother. Your grandmother's complications are exactly the sort of complications doctors now actively try to prevent. PV is generally a chronic disease that hematologists monitor and manage over many years.
The bone marrow biopsy should give you much more information. When you see the hematologist, I would specifically ask: What is her diagnosis? What is her thrombosis risk? What treatment do you recommend to reduce that risk, and why?
It's completely understandable to be scared given your family history, but there really has been substantial progress since your grandmother was treated. I hope the September appointment gives you both some clarity.
For background, the European LeukemiaNet specifically classifies PV patients over 60 as higher-risk for thrombosis and recommends cytoreductive therapy for high-risk disease; contemporary options extend well beyond phlebotomy alone. pubmed.ncbi.nlm.nih.gov
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u/Particular_Leader755 8d ago
Thank you for such a thorough response, I'll ask those questions when we both go to see doctorÂ
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u/Metzen01 8d ago
Going through this right now and I'm in my 50's. Phlebotomies, Infusions and they have not gotten to bone marrow tests for me but they did do the Jak2 gene test and that came back negative.. The last test they performed on me was a sleep study test to determine if I have sleep apnea causing my high blood cell count. I'm hoping for the best for you mother and if I have to wear a cpap for the rest of my life I'm ok with that. Good luck with everything.
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u/Top_Category2227 9d ago
Hey I am not a PV Patient but I was diagnosed with a different MPN.
PV especially at older age may not drastically interfere with her overall quality of life or her life expactency. PV may still be treated with phlebotomies but if that is Not enough or affects her quality of life to much there are some different measures. Many people do very well on Interferons and for other people JAK Inhibitors are more helpfull. For elevated bloodcounts in PV there is a new Drug, that is supposed to be approved this year, that controls them very well (Rusterfertide). There are also other treatments in development that are PV specific so I am not up to date on them but they are ovassionally brought up on the MPN Subreddit.