Re: MTHFR for old doctors
From: Garry E. Siegel, M.D. (garrys@mindspring.com)
Mon Oct 18 20:18:03 2004
I'll look up the articles.
Thanks, Art and Ron, and I do expect TJ to explain it, but I hope that I
can understand what he says.
Garry
At Mon, 18 Oct 2004, ainsron wrote:
>
>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
>
--
Garry E. Siegel, M.D.
Private Practice
Roswell, GA
