Hereditary Thrombophilia (C677T Mutation in heterozygous state of the Methylenetetrahydrofolatoreductase enzyme gene). Case presentation
DOI:
https://doi.org/10.62452/g6jehg20Keywords:
Recurrent pregnancy loss, Thrombophilia, metilentetrahydropholatereductase enzyme C677T mutationAbstract
Thrombophilia is characterized by an injury of the blood vessel wall, stasis or a change in blood composition, known as hypercoagulability, which is of congenital or acquired cause. Congenital thrombophilia is a genetically determined trend to develop thrombosis. A deficiency of certain coagulation proteins like An-titrombin, C protein, S protein, and certain mutations in coagulation factors are included among the most common causes: V Leiden factor, Prothrombin G20210A, and Metilentetrahydropholatereductase enzyme (MTHFR) mutations, among others. Pregnancy loss occurs because micro thrombi are generated within the placenta; also, the clots formed can obstruct blood vessels and make a proper oxygenation to be difficult. The case of a patient assisted at Cienfuegos´ Territorial Assisted Reproduction Center is presented since this entity is frequently observed in patients with recurrent pregnancy loss. Immunological studies were carried out and a C677T mutation in hetero-zygotic condition of the metilentetrahydropholatereductase enzyme gene was diagnosed.
Downloads
References
Baglin, T., Gray, E., Greaves, M., Hunt, B.J., Keeling, D., Machin, S., Mackie, I., Makris, M., Nokes, T., Perry, D., Tait, R.C., Walker, I., Watson, H., British Committee for Standards in Haematology (2010). Clinical guidelines for testing for hereditable thrombophilia. Br J Haematol, 149(2), 209-220.
Chen, P., Poddar, R., Tipa, E. V., Dibello, P. M., Moravec, C. D., Robinson, K., Green, R., Kruger, W. D., Garrow, T. A., & Jacobsen, D. W. (1999). Homocysteine metabolism in cardiovascular cells and tissues: implications for hyperhomocysteinemia and cardiovascular disease. Advances in Enzyme Regulation, 39, 93-109.
Cruz Hernández, J., Hernández García, P. Yanes Quesada, M., & Isla Valdés, A. (2007). Factores de riesgo de preeclampsia: enfoque inmunoendocrino. Parte I. Revista Cubana de Medicina General Integral, 3(24), 11-15.
Davenport, W. B., & Kutteh, W. H. (2014). Obstet Gynecol Clin North Am, 41(1), 133-144.
De Vries, H. M. (1903). The Mutation Theory. Ed. Germana.
Fernández Miranda, C., Aranda, J. L., Gómez, G.P., Díaz Rubio, P., Estenoz, J., & Gómez de la Cámara, A. (1999). La hiperhomocisteinemia es frecuente en pacientes con enfermedad coronaria. Estudio de 202 enfermos. Med Clin (Barc), 113, 407-410.
Gabbe, S., Niebyl, J., Simpson, J., Landon, M., Galan, H., Jauniaux E., Driscoll, D., Berghella, V., & Grobman, W. (2016) Obstetrics. Normal and Problem Pregnancies. Elsevier.
Grupo Cooperativo Argentino de Hemostasia y Trombosis. (2016). Ley de trombofilia. Hematología, 20, 53-69.
Kupfermic, A. (2003). Inhered thrombophilia and gestational vascular complications. Seminars in thrombosis and hemostasia, 29(2), 185-193.
Mayo Foundation for Medical Education and Research. (1998). Factor V Leiden https://www.mayoclinic.org/es-es/diseases-conditions/factor-v-leiden/symptoms-causes/syc-20372423
Menéndez Cabezas, A., & Fernández-Britto Rodríguez, J. E. (1999). Metabolismo de la homocisteína y su relación con la aterosclerosis. Revista Cubana de Investigaciones Biomédicas, 18(3), 155-168.
Ray, J. G. (1998). Meta-analysis of Hyperhomocysteinemia as a Risk Factor for Venous Thromboembolic Disease. Arch Intern Med. 158(19), 2101-2106.
Rodríguez, J. F., Escobales, N., Cruz, D., Banch, H., Rivera, C., & Altieri, P.I. (2001). Concentraciones totales de homocisteína plasmática en pacientes puertorriqueños con cardiopatía isquémica. Revista Española Cardiología, 54, 1411-1416.
Toth, B., Würfel, W., Bohlmann, M., Zschocke, J. Rudnik-Schöneborn, S., Nawroth, F. Schleußner, E., Rogenhofer, N., Wischmann, T., Wolff, M., Von, Hancke, K., Otte, S., Von, Kuon, R., Feil, K., & Tempfer, C. (2018). Recurrent Miscarriage: Diagnostic and Therapeutic Procedures. Guideline of the DGGG, OEGGG and SGGG (S2k-Level, AWMF Registry Number 015/050). Geburtshilfe Frauenheilkd, 78(4), 364–381.
Van Niekerk, E.C., Siebert, I., & Kruger, T.F. (2013). An evidence-based approach to recurrent pregnancy loss. SAJOG, 19(3), 61-65.
Downloads
Published
Issue
Section
License
Copyright (c) 2024 Revista Metropolitana de Ciencias Aplicadas
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.
© Podrá reproducirse, de forma parcial o total, el contenido de esta publicación, siempre que se haga de forma literal y se mencione la fuente.
