Journals / Perinatoloji Dergisi / 2004 / Cilt: 12 - Sayı: 1

Factor V leiden and methylenetetrahyrofolate reductase C677T mutations in deep venous thrombosis and recurrent pregnancy loss: Two caes reports

Derin ven trombozu ve tekrarlayan gebelik kayıplarında faktör V Leiden ve metilentetrahidrofolat redüktaz C677T mutasyonları: İki olgu sunumu

Pages
43–46
DOI
—
🏛️Bibliographic metadata and full text access for this article are provided via DergiPark.
DergiPark Record ↗
✨

AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Conclusion: When evaluating patients with venous thromboembolism and recurrent pregnancy loss, it is important to identify which subjects should be searched for FV Leiden ve MTHFR-C677T mutations, which laboratory method should be used and to determine theraupetic and prophylactic measurements for effected persons and their family members.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Background: Factor V Leiden and methylenetetrahydrofolate reductase C677T mutations are considered among the genetic etiologic factors for venous thromboembolism and recurrent pregnancy loss.
📊
Key Findings & Data:Cases: Two heterozygote carriers of Factor V Leiden and methylenetetrahydrofolate reductase C677T mutations were presented in this report.
💡
Conclusion & Impact:Conclusion: When evaluating patients with venous thromboembolism and recurrent pregnancy loss, it is important to identify which subjects should be searched for FV Leiden ve MTHFR-C677T mutations, which laboratory method should be used and to determine theraupetic and prophylactic measurements for effected persons and their family members.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Venöz tromboz · Faktör V · Gebelik

Abstract

Background: Factor V Leiden and methylenetetrahydrofolate reductase C677T mutations are considered among the genetic etiologic factors for venous thromboembolism and recurrent pregnancy loss. Cases: Two heterozygote carriers of Factor V Leiden and methylenetetrahydrofolate reductase C677T mutations were presented in this report. One of the cases, G2P0A1, devepoled deep venous thromboembolism during pregnancy. The other case, G6P3A3, had three early recurrent abortions and three deep venous thromboembolism attacks and she was planning another pregnancy. Conclusion: When evaluating patients with venous thromboembolism and recurrent pregnancy loss, it is important to identify which subjects should be searched for FV Leiden ve MTHFR-C677T mutations, which laboratory method should be used and to determine theraupetic and prophylactic measurements for effected persons and their family members.

Özet

Amaç: Faktör V Leiden ve termolabil metilentetrahidrofolat redüktaz, vasküler tromboz ve tekrarlayan gebelik kayıpları ile ilişkili olduğu öne sürülen fonksiyonel genetik polimorfizmlerdir. Olgular: Bu çalışmada, tekrarlayan gebelik kayıpları ve tekrarlayan derin ven trombozu olan bir olgu ile son gebeliğinde derin ven trombozu gelişen ve bir gebelik kaybı hikayesi olan diğer olguda Faktör V Leiden ve metilentetrahidrofolat redüktaz C677T gen mutasyonlarının heterozigot varlığını sunulmuştur. Sonuç: Bu iki klinik tabloya yaklaşımda genetik incelemenin tedavi edici ve profilaktik önemi vurgulanmaya çalışılmıştır.

🔖

Cite This Article

BAKSU, B., DAVAS, İ., KESİM, E. B., DÖLEK, B., AKYOL, A., ÇINAR, S. (2004). Factor V leiden and methylenetetrahyrofolate reductase C677T mutations in deep venous thrombosis and recurrent pregnancy loss: Two caes reports. Perinatoloji Dergisi, Cilt: 12 - Sayı: 1, 43–46. https://ajindex.com/articles/300412

📄 Full Text PDF Viewer

📄

PDF görüntüleyici hazırlanıyor...

References (1)

  1. Murphy R.P, Donoghue C, Nallen RJ, et al. Prospective evaluation of the risk conferred by factor V Leiden and thermolabile methylenetetrahydrofolate reductase polymorphism in pregnancy. Athero Throm Vasc Biol 2000; 20: 266-9 2. Dilley A, Benito C, Hooper WC, Austin H, Miller C, El-Jamil M, et al. Mutations in factor V, prothrombin and MTHFR genes are not risk factors for recurrent fetal loss. J Matern Fetal Neonatal Med 2002; 11: 176-82 3. Cleary-Goldman J, Nakhuda GS, Zimmermann RC, Sauer MV. The role of factor V Leiden mutation in recurrent pregnancy loss. J Am Med Womens Assoc 2003; 58: 165-72 4. Lindqvist P. Thrombotic risk during pregnancy: a population study. Obstet Gynecol 1999; 94: 595-9 5. Hooper WC, Evatt BL. The role of protein C resistance in the pathogenesis of venous thrombosis. Am J Med Sci 1998; 316: 120-8 6. Goldhaber SZ. Epidemiology of pulmonary embolism and deep vein thrombosis. In: Bloom AL, Thomas DP (Eds). Haemostasis and Thrombosis. Edinburgh, Churchill Livingstone; 1993; p:327-33 7. Abbate R, Sofi F, Gensini F, Fatini C, Sticchi E, Fedi S. Thrombophilias as risk factors for disorders of pregnancy and fetal damage. Pathophysiol Haemost Thromb 2002; 32: 318-21 8. Andres RL, Miles A. Venous thromboembolism and pregnancy. Obstet Gynecol Clin North Am 2001; 28: 613-30 9. Bertina MR, Koeleman BP, Koster T, Rosendaal FR, Dirven RJ, de Ronde H, et al. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994; 369: 64-7 10. Dahlback B, Carlsson M, Svensson PJ. Familial thrombophilia due to a previously unrecognised mechanism characterised by a poor anticoagulant response to activated protein C: prediction of a cofactor to activated protein C. Proc Natl Acad Sci USA 1993; 90: 1004-6 11. Yılmazer M, Kurtay G, Sonmezer M, Akar N. Factor V Leiden and prothrombin 20210 G-A mutations in controls and in patients with thromboembolic events during pregnancy or the puerperium. Arch Gynecol Obstet 2003; 268: 304-8 12. Pauer HU, Voigt-Tschirschwitz T, Hinney B, Burnfield P, Wolf C, Emons G, et al. Analyzes of three common thrombophilic gene mutations in German women with recurrent abortions. Acta Obstet Gynecol Scand 2003; 82: 942-7 13. Ament L. Factor V Leiden: a review of the literature. J Perinat Neonatal Nurs 2003; 17: 190-5 14. Lindvist PG, Svensson PJ, Dahlback B, Marsal K. Factor V Q506 mutation (activated protein C resistance) associated with reduced intrapartum blood loss - a possible evolutionary