MTHFR

שלום ! אני בת עשרים ושלוש ובעקבות היסטוריה משפחתית ביצעתי בדיקת MTHFR ונמצאתי הומוזיגוטית ביצעתי גם בדיקת הומוציסטאין ורמת ההומציסטאין אצלי היא 12.5 . האם עלי לקבל טיפול כלשהוא . האם עלי לבדוק את רמת ההומוציסטאין שוב ואם כן מתי . האם מותר לי להשתמש בגלולות למניעת הריון . ומה שכיחות התופעה . בתודה מראש שיר

כתבתי מספר תשובות בנושא כולל לינקים. חפשי לפי MTHFR או הומוציסטאין. השכיחות היא די גבוהה ותלויה באוכלוסיה הנדונה - בין 2-15% באוכלוסיה לבנה ועד 20%-30% באוכלוסיה סינית. עלייך לקחת בקביעות חומצה פולית - כמובן שאת צריכה להתייעץ עם הרופא המטפל שלך. גלולות הן גורם סיכון נוסף ולכן כנראה שלא מומלצות בנוכחות MTHFR הומוזיגוטי, למרות שאיני חושב שיש על כך נתונים מחקריים בדוקים. גם בנושא זה עלייך לשאול את הרופא המטפל בך. http://www.ucihs.uci.edu/path/MolPath/Thrombophilia.html והנה תקציר המרמז לסיכון ממאמר שאחד מכותביו היה ד"ר שמואל גיליס ז"ל שנרצח ע"י מחבלים בפיגוע ירי: Eur Neurol 2001;45(3):171-3 Mutation in the methylenetetrahydrofolate reductase gene might be a risk factor for cerebrovascular disease in peripartum and under oral contraceptive use. Korn-Lubetzki I, Gillis S, Steiner I Neurological Service, Bikur Cholim Hospital, Jerusalem, Israel. [email protected] Nine women (age 22-43 years) with cerebrovascular diseases (CVD) related to pregnancy, puerperium or contraceptive use were studied. Five were pregnant, 2 were post partum and 2 were taking oral contraceptives. All under- went a complete etiological examination including assessment for the thermolabile C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene mutation. Three of the 9 patients were homozygotic for the C677T MTHFR mutation, and 3 were heterozygotic. In these 6 patients, no other etiology could be found. Mutation in the thermolabile MTHFR gene might be an important cause for CVD related to peripartum or contraceptive use. ועוד תקציר Thromb Haemost 2001 Feb;85(2):256-9 Interaction of heritable and estrogen-induced thrombophilia: possible etiologies for ischemic optic neuropathy and ischemic stroke. Glueck CJ, Fontaine RN, Wang P Cholesterol Center, Jewish Hospital, Cincinnati, Ohio 45229, USA. [email protected] Our specific aim was to assess how thrombophilic exogenous estrogens interacted with heritable thrombophilias leading to non-arteritic ischemic optic neuropathy (NAION) and ischemic stroke. Coagulation measures were performed in a 74 year old patient and her immediate family. The proband had a 47 year history of 9 previous thrombotic episodes, and developed unilateral NAION 4 years after starting estrogen replacement therapy (ERT). The proband was heterozygous for two thrombophilic gene mutations (G20210A prothrombin gene, platelet glycoprotein IIIa P1A1/A2 polymorphism), and homozygous for the C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene. Of 238 normal controls, none had these 3 gene mutations together. The proband's mother and brother had deep venous thrombosis (DVT). The proband's brother, sister, nephew, daughter, and two granddaughters were homozygous for the C677T MTHFR mutation. The proband's brother was heterozygous for the G20210A prothrombin gene mutation. The proband's niece was heterozygous for the G20210A prothrombin gene mutation, homozygous for the C677T MTHFR mutation, homozygous for the hypofibrinolytic 4G polymorphism of the plasminogen activator inhibitor-1 (PAI-1) gene, and heterozygous for the platelet glycoprotein IIIa P1A1/A2 polymorphism. Of 238 normal controls, none had the niece's combination of 4 gene mutations. When ERT-mediated thrombophilia was superimposed on the proband's heritable thrombophilias, unilateral ischemic optic neuropathy developed, her tenth thrombotic event over a 5 decade period. When estrogen-progestin oral contraceptives were given to the proband's niece, she had an ischemic stroke at age 22. Exogenous estrogen-mediated thrombophilia superimposed on heritable thrombophilia and hypofibrinolysis is associated with arterial and venous thrombi, and appears to be a preventable, and potentially reversible etiology for ischemic optic neuropathy and ischemic stroke.

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