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Re: MTHFR for old doctorsFrom: ainsron (ainsron@sbcglobal.net)Mon Oct 18 19:04:05 2004
I believe this came from an article in Contemporary Ob/Gyn: The MTHFR mutation is an autosomal recessive trait with a thrombotic effect which is generally low during pregnancy or in estrogen-replete women, dependent on level of homocysteine. This thrombophilia results in increased amounts of the essential amino acid homocysteine build up in the plasma. The elevated levels have a toxic effect on the endothelium, leading to clot formation. Approximately 11% of Caucasians are homozygous for the most common cause of homocysteinemia, a mutation in methylenetetrahydrofolate reductase, abbreviated MTHFR. (Patients call this the "Monday, Thursday, Friday" disease.) Because estrogen decreases homocysteine levels in the serum, this disease rarely causes DVT in pregnancy. Nonpregnant patients with mild hyperhomocysteinemia may take oral contraceptives or use hormone replacement therapy. However, the MTHFR mutation may induce thrombosis postpartum. Hyperhomocysteinemia, unlike the other inherited thrombophilias, may be associated with recurrent embryonic loss, as well as fetal loss. Homocysteinemia is both embryotoxic and mutagenic. As many as 50% of open neural tube defects may be associated with the MTHFR mutation. Cardiac mutations may also be associated with elevated homocysteine levels. Moreover, the MTHFR mutation has been associated with preeclampsia, growth restriction, and abruption. Women with MTHFR mutation, are given 4 mg of folic acid, in addition to their prenatal vitamins, 250 µg of B12 and 25 mg of B6. Check a fasting homocysteine level 2 weeks later and, if that is abnormal, we increase the folic acid to 5 mg a day and the B6 up to 100 mg. Women who fit this profile do not need heparin therapy. With respect to changes in pregnancy management for women with thrombophilia, consider obtaining an ultrasound at 30 to 32 weeks to look at fetal growth. Doppler studies are not helpful in these patients in the absence of growth restriction. Unexplained elevated maternal serum alpha-fetoprotein levels suggest placental disease. Ronald E. Ainsworth -----Original Message----- From: ob-gyn-l@obgyn.net [mailto:ob-gyn-l@obgyn.net] On Behalf Of Garry E. Siegel, M.D. Sent: Monday, October 18, 2004 3:28 PM To: Multiple recipients of list OB-GYN-L Subject: OB: MTHFR for old doctors 40 YO P1314 at 10 weeks, with no personal history of thromboembolism: Ob #1 1987, different hubby--spont PTL after uncomp preg, delivered at 32 weeks. Ob #2, 1996, this hubby--35 week severe PIH due to IUGR, delivered due to same. Ob #3, 1999, 38 weeks, mild PIH, induced and delivered. Ob #4, 2001, 36+6, spont labor and delivery, no PIH. Ob #5, 2004, surprise(!), normal nuchal translucency/blood at 13 weeks, demise at 18 weeks. No studies done as they weren't having more children. Thus, given the above, did testing for the thrombophilias: Results negative for Lupus anti-coagulant, cardiolipin antibody, Factor V Leiden, ATT III, Protein S and C, yaday. MTHFR heterozygous positive, and MFM says no problem, but to test fasting homocysteine, which is being done. Here's my real question: I can't really find the basic science on this in anything I have. I've found a 1997 reference, and have ordered it. Does anyone have any articles for old doctors about thromobophilias in general? Thanks, Garry
-- Garry E. Siegel, M.D. Private Practice Roswell, GA
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