HomeAnswersHematologyjak 2 mutationI am suffering from JAK2+ ET and an MTHFR defect and started on HU. What should I consider next?

How to deal with JAK2+ ET and an MTHFR defect?

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Published At November 10, 2022
Reviewed AtNovember 10, 2022

Patient's Query

Hi doctor,

I am a 70-year-old female. I have JAK2+ ET and an MTHFR defect (homozygous). I was diagnosed and started on HU (800 mg QD). I take two non-enteric coated ASA BID. I had visual dimming and increased headaches (they responded to triptans). An MRI revealed two tiny infarcts. My stroke as a young woman was negative. Before that, my C-reactive protein was 23 or 25. No ESR was ordered. Thrombocytosis did not present. My father was diagnosed with PV at 60 years of age. I seek advice on "the next right thing" to consider. Hemostasis is my goal. I wonder if there are recommendations for a patient with my hematologic history if covid infection occurs. I am a semi-retired nurse practitioner and physician assistant. My background is in neurology (behavioral and stroke) and geriatric medicine. I used to be young, taking care of old people, and now the opposite is true.

Hi,

Welcome to icliniq.com.

After reviewing your history and detailed medical report, my opinion is that, you need regular follow up with your hematologist for ET (essential thrombocythemia). Regarding your anticoagulation therapy whenever any thrombosis occurs, you need full anticoagulation therapy as you must be aware of high risk of thrombosis in any myeloproliferative disease including your ET (essential thrombocythemia).

Wish you good health and we all have to pass through difficulties in life.

Patient's Query

Hi doctor,

Thank you for the reply,

I do see a MPN specialist. I wrote to you for suggestions to maximize my care. Could you comment on my MTHFR defect? I do take a MVI with Methylated B12 and Folate already. HU apparently does not change the risk of thrombosis. Mucocutaneous lesions are uncomfortable.

Or it could be a pegasys? Any thoughts on covid boosters in combination with my ET and MTHFR defect? Those thoughts can be educational rather than a specific recommendation.

I appreciate your wisdom and appreciated your well wishes.

Hi,

Welcome back to icliniq.com.

HU (hydroxyurea) in ET (essential thrombocythemia) can lower thrombosis by decreasing platelet count, but still, Asprin is also helpful. If ET (essential thrombocythemia) is well controlled, the covid-19 vaccine can be taken.

Regarding your MTHFR (methylene tetrahydrofolate reductase) defect, it is involved in homocysteine metabolism. But as said before, genetic experts can explain better.

Same symptoms don't mean you have the same problem. Consult a doctor now!

Dr. Abdul Aziz Khan
Dr. Abdul Aziz Khan

Medical oncology

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