MTHFR Mutation/Thrombosis

[Guest guest]

A patient of mine (50 yo male)recently was diagnosed with DVT without any real

specific risk factors for it. The ER did lots of labs to look for possible

etiology and it shows he is positive, homozygous, for MTHFR C677T mutation. I am

having trouble finding information if I can treat this as usual with 3-6 months

of warfarin or does having this mutation warrant lifelong treatment to prevent

future ones? Has anyone come across this before? I see that this mutation puts

him at risk for thrombosis, hyperhomocysteinemia, and atherosclerotic heart

disease. The easist thing of course is to refer him to hematology but I really

trust you all and thought I would start here.

Thanks.

Margaret Coughlan

[Guest guest]

Thanks Margaret for the information. I have a young patient who is homozygous for another MTHFR gene mutation but her homocysteine is normal. Sent her to hematology anyway because she has May Thurner Syndrome (compression of left iliac artery by left iliac vein) that presented with LLE swelling. She is now on lovenox after after stent placement.

Michele

Glen Mills, PA

To: Cc: < > Sent: Monday, December 19, 2011 8:55 PMSubject: Re: MTHFR Mutation/Thrombosis

I emailed a local hematologist and here was his response which I thought was helpful:"MTHFR gene mutations do not have any clinical significance in the absence of an elevated homocysteine level. If homocysteine is elevated there would be a role for treatment with folgard to get homocysteine level down. Duration of anticoagulation is a controversial issue. If there were no absolutely no provoking factors (long airplane or car ride, trauma, prolonged immobilization) the official recommendation from the american college of chest physicians 2008 guidelines is a/c for an indefinite period of time. However, myself and many others do not recommend lifelong a/c because risks of bleeding potentially outweigh benefit at preventing a recurrent dvt. An Italian study found 1 year is better than 6 or 3 months so if its truly unprovoked I would do a year. If provoked then 6 months. This also applies to situations in which there is a hereditary

thrombophilia such as factor V leiden or PT gene mutation. If there is a lupus anticoagulant then it would be lifelong a/c. Hope that helps. " MTHFR Mutation/Thrombosis A patient of mine (50 yo male)recently was diagnosed with DVT without any real specific risk factors for it. The ER did lots of labs to look for possible etiology and it shows he is positive, homozygous, for MTHFR C677T mutation. I am having trouble finding

information if I can treat this as usual with 3-6 months of warfarin or does having this mutation warrant lifelong treatment to prevent future ones? Has anyone come across this before? I see that this mutation puts him at risk for thrombosis, hyperhomocysteinemia, and atherosclerotic heart disease. The easist thing of course is to refer him to hematology but I really trust you all and thought I would start here. Thanks. Margaret Coughlan