JAK2 Mutation

Life after stroke
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I feel this might be too niche, but I’ll give it a go anyway!

In January 2024 I had a subarachnoid haemorrhage and stroke caused by CVST.

I went to a haematology (blood) appointment on Wednesday. At my last appointment they took lots of blood to see if I have a blood clotting disorder. I’ve tested positive for the JAK2 mutation/Essential thrombocythemia (ET) Myeloproliferative neoplasms (MPN). In short, I have a rare type of blood cancer. This is very likely to have caused my CVST which in turn caused my Subarachnoid haemorrhage and stroke.

The good news is although it is classed as a cancer, it’s only classed as that as it’s a mutation. It’s not going to be something I have to battle, instead it’s something I will live with. This can’t be cured but it can be treated if it progresses and at the minute I’m fortunate enough that it just needs monitoring.

Just wondered if anyone has had a similar experience?

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Good to know it is not actually a cancer and that can be treated if it progresses.
:pray:

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Sorry to hear this @Bigmugoftea hopefully someone on here may be able share a similar experience.

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I just looked up Magnesium and ET

Essential thrombocythemia (ET) is a myeloproliferative neoplasm (MPN) characterized by an overproduction of platelets, increasing the risk of thrombosis and bleeding. The JAK2 V617F mutation is present in about 50–60% of ET patients, while others may have mutations in CALR or MPL.

Role of Magnesium in JAK2+ Essential Thrombocythemia

Magnesium (Mg²⁺) plays a role in platelet function and thrombosis risk, which is relevant in ET:

  1. Antiplatelet Effects:
  • Magnesium inhibits platelet aggregation, potentially reducing thrombotic risk.
  • Low magnesium levels have been associated with increased platelet reactivity.
  1. Thrombosis Prevention:
  • ET patients are at high risk for arterial and venous thrombosis.
  • Maintaining adequate magnesium levels may help modulate platelet hyperactivity.
  1. Cardiovascular Health:
  • Hypomagnesemia is linked to endothelial dysfunction and hypertension, which are risk factors for thrombosis.

Clinical Considerations

  • Monitoring Mg Levels: ET patients, especially those on diuretics or with kidney dysfunction, should have magnesium levels checked.
  • Supplementation (if deficient): May help in reducing thrombotic tendency, though evidence is not definitive.
  • Interaction with Aspirin: Most ET patients take low-dose aspirin; magnesium does not interfere and may enhance antiplatelet effects.

Other Key Management Strategies for JAK2+ ET

  • Cytoreductive therapy (e.g., hydroxyurea, interferon-α) in high-risk patients.
  • JAK inhibitors (e.g., ruxolitinib) are not first-line for ET but may be used in select cases.
  • Regular monitoring for disease progression to myelofibrosis or acute leukemia.
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Sorry no I haven’t had the same,but I Have to say I got a lot of pleasure from reading your post as a biologist.what about family members presumably the mutation was inherited.

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@Bigmugoftea i don’t have the JAK2 mutation but after my stroke I was diagnosed with MGUS, which is also a blood disorder that can progress to multiple myeloma. I am monitored regularly for this by haematology. It too us treatable (for a while at least) but not curable. Initially i found it difficult to deal with but have now put it in the “don’t worry” box until they tell me it has progressed. The haematologust made the treatment (chemotherapy) sound like they would be prescribing me a course of paracetamol :grinning_face_with_smiling_eyes:

Hope you never progress to needing treatment.

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The consultant said it isn’t something you inherit, just something you develop.

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Thank you. I hope you stay healthy too

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Not possible it’s a mutation.all mutations are based in dna which we get from our parents.

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I don’t know :woman_shrugging: That’s what the consultant said