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Thread: Anyone out there with Lupus and MTHFR Genetic Mutation?

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    Default Anyone out there with Lupus and MTHFR Genetic Mutation?

    I have never used an internet forum before. I thought this might be the best way to connect with other people who have been diagnosed with lupus and lupus related maladies. I have found you just can't walk up to people and say "Hi, I have lupus." Others do not understand the disease. For that matter, I don't "understand" it myself. A lot of people have heard of lupus, but unless you have it you don't really learn very much about it. It seems to have taken over my life.
    I was diagnosed with lupus at the beginning of this year. As I have read from so many others I have probably been living with lupus for many years and didn't realize it until the symptoms became so severe that a concerned MD actually tested me for it. Even after I was diagnosed the Rhumetologist I was sent to didn't seem to take Lupus very seriously. He told me that the good news was that it wasn't going to kill me. Needless to say his "bedside manner" was lacking.
    I wasn't treated properly and ended up with severe plueresy and incredible joint pain. Because I didn't understand my symptoms, still really don't, and all those around me seemed to think most of my issues were "in my mind" I let my health deteriorate to the point I almost lost my life. I spent 15 days in the critical care unit at my local hospital with a severe pulmonary embolism. I will be disabled off of work for at least 4 mos. and have endured endless tests, procedures and medications. I now know that while things will stabilize I will be dealing with this for the rest of my life. I just want to find some quality of life again.
    Throughout the course of this journey I have found that I have a genetic mutation that seems to be related to lupus. Does anyone else out there have MTHFR Mutation and Lupus? I would really like to share any experiences and/or information you may have.
    Looking forward to learning all I can,
    Bonnie B

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    Hi Bonnie;
    Welcome to our family where you will find that everyone here is caring, concerned, supportive, informative and willing to help you in any way that we can. It is also important to us that you know that you are not alone!
    Here is some information about the MTHFR mutation:

    Thrombosis in the venous or arterial system is quite common in systemic lupus erythematosus (SLE), especially those with antiphospholipid syndrome. Thrombophilic mutations of factor V, prothrombin and methylene tetrahydrofolate reductase genes are being studied in patients with SLE and thrombosis. Thrombosis is the forming of a blood clot in the arteries or the heart cavity.
    Researchers found T mutation in the methylenetetrahydrofolate reductase gene in 84% of the patients with lupus anticoagulants. Those patients also had increased titres of anticardiolipin antibodies. A history of thrombosis was present in 63% of their patients and they also suffered from venous thrombosis only. Some patients also had arterial thrombosis and a small number of patients had both venous and arterial thrombosis.
    It is well known that vascular damage in SLE occurs because of multiple mechanisms including "hypercoagulation" (blood clots). It has been recently reported that in SLE patients, raised levels of homocysteine are associated with arterial thrombosis. (Homocysteine is an amino acid (a building block of protein) that is produced in the human body. High homocysteine levels in the blood can cause cholesterol to change to something called oxidized low-density lipoprotein, which damges the arteries. In addition, high homocysteine levels may make blood clot more easily than it should. This can increase the risk of blood vessel blockages. A blockage might cause you to have a stroke. It might also make a problem with blood flow, such as atherosclerosis, worse.) A healthy homocysteine level is less than 12 Ámol per L. A level greater than 12 Ámol per L is considered high. The most common genetic defect in homocysteine metabolism is a decreased activity of a common 5,10-methylenetetrahydrofolate reductase (MTHFR). methylenetetrahydrofolate reductase (MTHFR) is an enzyme required for efficient homocysteine metabolism. The genetic mutation in methylenetetrahydrofolate reductase creates a thermolabile enzyme with reduced activity. Thermaolbile means: Subject to destruction, decomposition, or great change by moderate heating. This term is primarily used when talking about biochemical substances.
    Although the thermolabile MTHFR mutation is very common in SLE, it is felt that this does not predispose patients with a significant genetic risk factor for late-onset vascular disease. The risk is greater with those SLE patients with antiphospholipid syndrome. The detection of the abnormalities may have major practical consequences for the long-term management of these SLE patients with a positive lupus anticoagulant (LAC), in order to prevent further thrombotic episodes.
    I hope this information has been helpful. Let me know if you need anything further!

    Peace and Blessings
    Saysusie
    Look For The Good and Praise It!

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    Default Thanks for the info

    Thank you for the info. All of this is so technical and difficult to absorb. But, I assume with time I will become an expert on my condition. Educating myself gives me some sense of empowerment. I can't control what is going on in my body but at least I will learn what, and why, I feel the way I do. I feel like it is the only way I can fight back.
    I am overwhelmed right now. I have just had a near death experience that I still cannot fathom. I have always been one of the strongest women I know, there has never been anything I cannot conquer if necessary. And now I have Lupus. Now I can't do even simple things, tasks I want to do, need to do. My body has betrayed me. I find that I still think I can do anything and when I try I pay the price. I am frustrated and afraid. I cry out of that frustration and anger and no one understands. My loved ones look at me like I have lost my mind. Sometimes I think I am lost in self pity, but I know that is not true. I will find answers to help me live with this, and someday I won't be so afraid. I just don't want to get lost in the morbidity of my situation. That is why I am looking for answers.
    Thank you again for the info.
    Bonnie B

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    You are most welcome. Too many of us know, all too well, how lonely this disease can make you feel and how frustrating it can be to never feel well and to always have something hurting you somewhere! Because people can see any deformities on our bodies or open wounds or sores on us, they tend to think that we are not as sick as we say we are: The "But you don't look sick" syndrome! So, this can make us feel as if we are losing our minds when we know something is wrong, no one can tell us exactly what it is and all of our friends and family look at us as if we were insane.
    There is nothing wrong with you feeling frustrated, it is a natural reaction to how we are looked at and treated. You can come here and vent your feelings to us as often and as much as you like, because we have all "Been there..done that!" You will never be dismissed here and all of your questions and concerns will be taken seriously. Please know that you are not alone and that we are here to help you as much as we can!

    Peace and Blessings
    Saysusie
    Look For The Good and Praise It!

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