Genetic Disorders Expert Forum
Thigh pain and C677T mutation
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Thigh pain and C677T mutation

My basic question is:  Could chronic thigh pain be attributed somehow to having the C677T mutation of the MTHFR gene?   (Could there be multiple small arterial occlusions that can not be seen on a Doppler sonogram or in an MRI?)

I have had ongoing thigh pain for almost 3 years now and have not been able to obtain a diagnosis or receive any relief. The pain in the top and outside of the left thigh; Pain includes: an ongoing tired, deep dull ache; sporadic sharp, stabbing pains (stabbing down into the top or side of the thigh); occasionally the thigh muscles ache with such soreness (as one would get right after a long workout); occasionally, the entire thigh area feels as though it is slowly/softly twitching/moving/shifting.

I just stopped taking the birth control pill (after being on it for 10 years); I stopped it due to just being confirmed to have the C677T mutation of the MTHFR gene. (This was discovered after 3 of my siblings had blood clots & vision loss and were confirmed with 1 or 2 of the mutations of the MTHFR gene).

Over the last 3 years, I have had: 2 Doppler sonograms; x-rays of the leg, hip and spine; MRI of the thigh and lower back; sonogram of the aorta to rule out aneurysm; EMG and Nerve Conduction study; tried a Chiropractor for 5 months; tried orthotics inserts; and had many blood tests for: Rheumatory factors, Lymes Disease, C-Reactive protein, Lupus, homocysteine, factor V Leiden, B12, muscle enzymes, prothrombin, hemostasis, CBC, etc...Besides being confirmed to have the C677T mutation, all tests were fine.

I have tried: OTC anti-inflammatories and prescription anti-inflammatories; Physical Therapy, a pain patch, B6, B12, and the Graston Technique (in physical therapy).

I am very concerned about my strong family history of blood clots along with these MTHFR mutations and was hopeful for some insight as to if this could have anything to do with my thigh pain.

Thank you.



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