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

This Premium Q&A, reviewed and published, features a real conversation between an iCliniq user and a physician.

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 was 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 a COVID-19 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 the high risk of thrombosis in any myeloproliferative disease, including your ET (essential thrombocythemia).

I hope this information is helpful.

Please let me know if you have any further questions, and I would be happy to assist you.

Thank you.

Patient's Query

Hi doctor,

Thank you for the reply,

I do see an MPN specialist. I wrote to you for suggestions to maximize my care. Could you comment on my MTHFR defect? I do take an 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 appreciate your well wishes.

Hi,

Welcome back to icliniq.com.

HU (hydroxyurea) in ET (essential thrombocythemia) can lower thrombosis by decreasing platelet count, but still, Aspirin 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.

I hope this information is helpful.

Please let me know if you have any further questions, and I would be happy to assist you.

Thank you.

Medically reviewed byiCliniq medical review team

Published At November 10, 2022
Reviewed AtDecember 1, 2025

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