Genetic Disorders Expert Forum
MTHFR a1298c
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Questions in the Genetics Forum are being answered by medical professionals and experts. This forum is for questions and support regarding a person’s predisposition to a variety of medical conditions such as Ashkenazi Jewish Diseases, Bleeding Disorders, Blood Clotting Disorders, Cancer Genetics and Hereditary Cancer Syndromes, Chromosome Abnormalities, Congenital Birth Defects, Cystic Fibrosis, Family History, Fragile X Syndrome, Infertility, Newborn Screening, Rare Genetic Disorders, Prenatal Screening and Testing.

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MTHFR a1298c

I recently had a heart attack.  A few years ago my brother had a DVT and didn't respond to coumaden.  During my heart attack I didn't respond to Heparin.  My BP was 189/119 and my heart rate was 40 bpm.  After twelve hours they did a cardiac cath procedure and flushed out the clot.  I tried to tell the doctors about my bother's test results, but they said that was irrelevant since they put me on Plavix.  Is this right?  Does Plavix address folic acid, B6 and B12 deficiencies?  Should I insist on getting tested?  My total cholesterol level is 118, and the cardiologist wh did the cath said my arteries looked "as smooth as a baby's bottom".
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First of all, we hope you are feeling well and are getting the support and care you need. I am not quite sure from your email if you or your brother has had genetic testing for MTFHR and/or other inherited blood clotting disorders. And, if so, how many variations were present (one or two). If not, we recommend that you meet with a medical geneticist who can review your personal and family history and discuss the benefits and limitations of genetic testing for these conditions.

In addition, there are known genetic variations that affect the way the body metabolizes certain medications such as plavix and warfarin (coumadin). We recommend that you speak with a genetic professional to discuss the benefits and limitations of drug response testing for cardiovascular medications, as it may help your doctors prescribe safer and more effective medications for you.

You can find a medical geneticist at the American College of Medical Genetics website. You can find a genetic counselor at the National Society of Genetic Counselors website or through companies like mine, AccessDNA.
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I wasn't very specific in my last question.  My brother did test positive for the MTHFR A1298c mutation.  He had one variation present.  Both of our parents, and my aunt (father's sister) died of stroke, so I have had a concern about this for a long time.  I am on Medicare disability, and I live in an area where the doctors are very conservative. None of them are too eager to perform expensive tests.  I do see a doctor for a follow-up visit post hospital discharge next week.  Should I start by asking for a homocystine test?  There is no record on my hospital lab sheet for homocystine levels.  Again, thank your for your advice.  There is a Genetic counselor in my area, but how do I convince my PCP to take my concerns seriously.  He insists my problems are all related to IBS; stomach pain, diarrhea, lack of appetite... these symptoms all correspond to low folate levels as well.  Again, thank you for your time.

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