OB-GYN-L Messages for October, 2004: Re: MTHFR for old doctors

Re: MTHFR for old doctors

From: Efrain Ramirez

eramirezt@coqui.net

Tue Oct 19 21:36:47 2004

>At Tue, 19 Oct 2004, Terrence.Jones@kp.org wrote:
>
>This is a multipart message in MIME format.
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>Content-Transfer-Encoding: quoted-printable
>
> Where to begin? Think of HCY (homocysteine) as an ingredient in a
>soup. It matters what other ingredients are present, and their
>concentration, along with the properties of the bowl in which the soup is
>placed. Rather than predict thrombosis risk on the basis of a single
>ingredient, a better measure would be the viscoelastic properties of the
>final product and how it interacts with endothelium (normal or damaged).
>Someday... Maybe, in the meantime, SELDI + Mass Spec + a little data
>mining = informative correlation coefficients? Waiting is...
>
> Certainly has been some recent interest in folate supplementation
>(co-enzyme for MTHFR) to reduce CVA. B-6 and B-12 are probably more impt
>in the other two cysteine pathways.
>
> You asked about Menostar a few weeks ago (ultra low dose ERT
>patch) - check out O/G 104:443-51 (Ettinger). NA7, 0.014 mg/D, serum
>increase from 4.8 to 8.6 pcg/ml. Hip BMD increase 0.4%, vs decrease of
>0.8% in placebo. 1 Case hyperpl in Rx group; none in placebo ("not sig").
>The oral ERT supps raise CRP (C-reactive protein) from first pass hepatic
>FX, this is reduced with transdermal. The pro-inflam cytokine (CRP) may
>aggravate pre-existing CAD (too much salt in the soup!). tj
>
>garrys@mindspring.com (Garry E. Siegel, M.D.)
>Sent by: ob-gyn-l@obgyn.net
>10/18/2004 06:19 PM
>Please respond to ob-gyn-l
>
> To: Multiple recipients of list OB-GYN-L <ob-gyn-l@dns.obgyn.n t>
> cc:
> Subject: Re: MTHFR for old doctors
>
>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 痢 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
>
>--=_alternative 0061956B88256F32 Content-Type: text/html; charset="iso-8859-1"
>Content-Transfer-Encoding: quoted-printable
>
> � � � � Where t begin? Think of HCY (homocysteine) as an ingredient in a soup. It matters what other ingredients are present, and their concentration, along with th properties of the bowl in which the soup is placed. Rather than predict t rombosis risk on the basis of a single ingredient, a better measure would e the viscoelastic properties of the final product and how it interacts wi h endothelium (normal or damaged). Someday... Maybe, in the meantime, SELD + Mass Spec + a little data mining = informative correlation coefficien s? Waiting is... 
> 
> � � � � Certain y has been some recent interest in folate supplementation (co-enzyme for M HFR) to reduce CVA. B-6 and B-12 are probably more impt in the other two c steine pathways.
> 
> � � � � You ask d about Menostar a few weeks ago (ultra low dose ERT patch) - check out O/ 104:443-51 (Ettinger). NA7, 0.014 mg/D, serum increase from 4.8 to 8. pcg/ml. Hip BMD increase 0.4%, vs decrease of 0.8% in placebo. 1 Case hyp rpl in Rx group; none in placebo ("not sig"). The oral ERT supps raise CRP (C-reactive protein) from first pass hepatic FX, this is reduced with transdermal. The pro-inflam cytokine (CRP) may aggravate pre-existing CAD (too much salt in the soup!). tj
> 
><table width0%>
><tr valign=top>
><td>
><td>garrys@mindspring.com (Garry E. iegel, M.D.)
> Sent by: ob-gyn-l@obgyn.net
>10/18/2004 06:19 PM
> Please respond to ob-gyn-l
> 
><td>� � � � 
> � � � � To: &nb p; � � 瓱ultiple recipients of list OB-GYN-L <ob-gyn-l@d s.obgyn.net>
> � � � � cc: &nb p; � � �
> � � � � Subject � � � 袠e: MTHFR for old doctors</table>
> 
> 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 e fect 
>>which is generally low during pregnancy or in estrogen-replete women,< r>
>>dependent on level of homocysteine. �This thrombophilia results i increased 
>>amounts of the essential amino acid homocysteine build up in the plasm . The 
>>elevated levels have a toxic effect on the endothelium, leading to clo 
>>formation. Approximately 11% of Caucasians are homozygous for the most br>
>>common cause of homocysteinemia, a mutation in methylenetetrahydrofola e 
>>reductase, abbreviated MTHFR. (Patients call this the "Monday, Th rsday, 
>>Friday" disease.) Because estrogen decreases homocysteine levels n 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< r>
>>mutation may induce thrombosis postpartum. 贌yperhomocysteinemia, unlike the 
>>other inherited thrombophilias, may be associated with recurrent embry nic 
>>loss, as well as fetal loss. 
>>Homocysteinemia is both embryotoxic and mutagenic. As many as 50% of o en 
>>neural tube defects may be associated with the MTHFR mutation. 蟖 rdiac 
>>mutations may also be associated with elevated homocysteine levels. 
>>Moreover, the MTHFR mutation has been associated with preeclampsia, gr wth 
>>restriction, and abruption. 
>>Women with 瓱THFR mutation, are given 4 mg of folic acid, in addi ion to 
>>their prenatal vitamins, 250 痢 of B12 and 25 mg of B6. Check a fast ng 
>>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 p ofile 
>>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 l ok at 
>>fetal growth. Doppler studies are not helpful in these patients in the br>
>>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 Garr 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:< r>
>> 
>>Ob #1 1987, different hubby--spont PTL after uncomp preg, delivered at br>
>>32 weeks. 
>> 
>>Ob #2, 1996, this hubby--35 week severe PIH due to IUGR, delivered due br>
>>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. 賫o studies done as they weren't having more< r>
>>children. 
>> 
>>Thus, given the above, did testing for the thrombophilias: 
>> 
>>Results negative for Lupus anti-coagulant, cardiolipin antibody, Facto 
>>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. &nbs ;I've 
>>found a 1997 reference, and have ordered it. 痃oes anyone have an 
>>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 
>
> 
>

-- "The opposite of a correct statement is a false statement. But the opposite of a profound truth may well be another profound truth."

Niels Bohr (1885 - 1962)

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