Discussions By Condition: Rare Disases

MTHFR Mutation Gene, Protien S Defiency, Protien C Defiency

Posted In: Rare Disases 4 Replies
  • Posted By: billyandsarah99
  • December 6, 2006
  • 03:40 PM

I was just wondering if anyone has any of these conditions or knows alot about them. When I was pregnant with my son, who is now 6 mnths, my OB ran some test on me to try and find out why I lost my lil girl so late in my last pregnacy before him. It came back that I had these conditions. I had to go to a specialits, take a baby aspirin everyday and shots of Lovenox and then after my pregnancy I was referred to a diff. specialtist. He reran the blood work on these and it came back I was borderline on one, but not a big deal, and the other I no longer had. Of course the MTHFR Mutation Gene I will always have.
I just had a couple of questions if anyone has these or knows about them.

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4 Replies:

  • I have Factor 5 Lieden and MTHFR , My sister has Factor 5 and Protein C, and Possibly MTHFR. We have been told this is a genetic mutation that causes the blood to clot too much. That is why people with this mutation have M/C. We have to take a baby aspirin everyday to prevent clots and Large Doses of B6,B12 and Folic Acid to compensate for our bodies inability to process folic acid correctly. The MTHFR causes High Homocysteine levels that can lead to all sorts of problems. I have found some research that says it can make a person more susceptible to Fibromyalgia and Chronic Fatigue. This Diagnosis has been a dream for me. I have been dealing with Fibromyalgia and Chronic Fatigue type symptoms for most of my life. Since I started my Vitamin treatment I have felt so much better. It has also helped with some of my ADD Symptoms. I don't know if this is a placebo effect or not, but at this point I don't care.
    Anonymous 42,789 Replies
    • September 16, 2008
    • 02:15 AM
    • 0
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  • Ameliarake got them mixed up. The Protein C makes things a bit dicey for her sister, though O_OMTHFR can cause a build up of homocysteine levels wich can lead to toxicity and stroke if high enough. It can also cause a severe deficiency in B-vitamins, specifically Folate/Folic Acid; severe enough to qualify as B-Vitamin Anemia. Folic deficiency has been linked to clinical depression and schizophrenia, migraines, and birth defects among other things. Seizures, developmental delay, neurologic imparement, and a history of depression and/or fertility issues are all included on the list of possible symptoms for MTHFR. Surprisingly MTHFR is extremely common, about half the global human population has some form of expressed or detectable MTHFR defect. Though the increased homocysteine can influence overclotting in homozygous individuals, MTHFR does not typically cause the overclot complication.Factor V Leiden (FVL/F5L) is the clotting disorder. It was explained to me as "your system has a clotting agent to keep you from hemorraging and an ant-clotting agent (Activated C-Protein) to keep your blood flowing. They both work fine, but FVL makes you resistant to your anti-clotting agent ("Activated C Resistant" or ACR) thus working as an overclot." People with FVL are at risk of stroke and heart attack, deep vein thrombosis, and of course pregnancy issues. Classic Factor V is a hemophelia disorder rather than a thrombophelia like it's Leiden offshoot...make sure you know which one you're dealing with. FVL is the single most common cause of (over) clotting disorders.Protein C Defeciency is almost worse than ACR. ACR can be combatted with "thinners" like Asprin, but if you have a defeciency then you need to find some way of correcting that; likely with Vitamin C suppliment, but be carfeul with that. PCD can be genetic or it can be induced. The most common way to induce is through use of Warfarin (main symptom: warfarin-induced skin necrosis within a few days of first use). PCD is clinically rare. also: "There are articles out that state having FVL can put you at a higher risk of having inherited some of the other thrombophiliac disorders as well, such as Antithrombin deficiency or Prothrombin 20210 or possibly Protein C or S deficiency" (FVL support website) Basically FVL (or ACR), PCD, and PSD are three different disorders that act the same way and sometimes travel together.Be sure to check with your doctor before trying any therapies or suppliments.Check out the following for more info:http://www.factorfiveleidensupport.org/pregnancy.html - FVL & Pregnancy from FVL Support websitehttp://www.fvleiden.org/ask/51.html FVL and MTHFR and pregnancy at Thrombophelia Awareness Project's AskTheDoctorhttp://mthfr.net/ MTHFR website posted by a mother who's MTHFR Homozygous (she's in the MTFHR High Risk group)http://www.healthscout.com/ency/68/756/main.html Health Encyclopedia: PCD
    Anonymous 42,789 Replies
    • January 6, 2009
    • 04:46 PM
    • 0
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  • I have MTHF - double gene. It is discovered that with this gene issue one has high levels of folic acid in blood- since folic acid is undermythalated. High levels of folic acid causes high histimine- Be careful of this! TMG (betaine) is helpful and following a low histimine diet
    Anonymous 42,789 Replies Flag this Response
  • Ameliarake got them mixed up. The Protein C makes things a bit dicey for her sister, though O_O MTHFR can cause a build up of homocysteine levels wich can lead to toxicity and stroke if high enough. It can also cause a severe deficiency in B-vitamins, specifically Folate/Folic Acid; severe enough to qualify as B-Vitamin Anemia. Folic deficiency has been linked to clinical depression and schizophrenia, migraines, and birth defects among other things. Seizures, developmental delay, neurologic imparement, and a history of depression and/or fertility issues are all included on the list of possible symptoms for MTHFR. Surprisingly MTHFR is extremely common, about half the global human population has some form of expressed or detectable MTHFR defect. Though the increased homocysteine can influence overclotting in homozygous individuals, MTHFR does not typically cause the overclot complication. Factor V Leiden (FVL/F5L) is the clotting disorder. It was explained to me as "your system has a clotting agent to keep you from hemorraging and an ant-clotting agent (Activated C-Protein) to keep your blood flowing. They both work fine, but FVL makes you resistant to your anti-clotting agent ("Activated C Resistant" or ACR) thus working as an overclot." People with FVL are at risk of stroke and heart attack, deep vein thrombosis, and of course pregnancy issues. Classic Factor V is a hemophelia disorder rather than a thrombophelia like it's Leiden offshoot...make sure you know which one you're dealing with. FVL is the single most common cause of (over) clotting disorders. Protein C Defeciency is almost worse than ACR. ACR can be combatted with "thinners" like Asprin, but if you have a defeciency then you need to find some way of correcting that; likely with Vitamin C suppliment, but be carfeul with that. PCD can be genetic or it can be induced. The most common way to induce is through use of Warfarin (main symptom: warfarin-induced skin necrosis within a few days of first use). PCD is clinically rare. also: "There are articles out that state having FVL can put you at a higher risk of having inherited some of the other thrombophiliac disorders as well, such as Antithrombin deficiency or Prothrombin 20210 or possibly Protein C or S deficiency" (FVL support website) Basically FVL (or ACR), PCD, and PSD are three different disorders that act the same way and sometimes travel together. Be sure to check with your doctor before trying any therapies or suppliments. Check out the following for more info: http://www.factorfiveleidensupport.org/pregnancy.html - FVL & Pregnancy from FVL Support websitehttp://www.fvleiden.org/ask/51.html FVL and MTHFR and pregnancy at Thrombophelia Awareness Project's AskTheDoctorhttp://mthfr.net/ MTHFR website posted by a mother who's MTHFR Homozygous (she's in the MTFHR High Risk group)http://www.healthscout.com/ency/68/756/main.html Health Encyclopedia: PCD I have MTHFR polymorphism.. 2 copies. I dont have any of those other illnesses you mentioned (i got tested for those as well). My blood does clot time is out of normal range and clots faster.MTHFR polymorphism from my research rates vary in different countries.. the highest i found was 17% (that could of been in france?), so i dont know where the half of the global population thing came from in your post. I like the other poster.. also have CFS/ME with this polymorphism. Methylation cycle issues have been linked to CFS............... MTHFR can be a serious thing.. my daughter was born disabled with similar to spina bifia from it (caudal regression syndrome). My father has got schizophrenia (and probably has this polymorphism too.. as after all I got a copy of it from each parent). An increase of homocysteine by 5umol/L increases the coronary and stroke risk by between 50-80%. Hence my specialist has me on supplements due to the MTHFR issue. Heart and stroke issues do run in both sides of my family (possibly due to this). Due to this (to lower homocysteine and donate methyl groups).. per day im onFolic Acid 2.5mgmethyl cobalamin (special form of B12) 400mcgtrimethyl glycine (TMG) 600 mgpyridoxal 5 phosphate (special form of B6) 5-10mg per day (i dont always need to take all that.. and have now got my homocysteine level down to 6.8 (it was originally 8.9 .. so within normal range but this level shows an issue, an issue that was bad enough for me to give birth to a deformed child)
    taniaaust1 2,267 Replies
    • September 2, 2010
    • 09:34 AM
    • 0
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