The Importance of MTHFR C677T/A1298C Combined Polymorphism in Deep Vein Thrombosis: A Case Report

A 37-year-old woman presented in the emergency room with abdominal pain and nausea for about three weeks. She had no known risk factors for venous thromboembolism beyond taking oral contraceptives as a regular medication. Computed tomography (CT) scan revealed portal, superior mesenteric and splenic...

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Detalles Bibliográficos
Autores principales: Machado, Marcia, Neto, Daniela, Nunes, Silvia, Cunha, Cristina, Fernandes, Carlos, Alves, Glória, Cotter, Jorge
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Internal Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9576123/
https://www.ncbi.nlm.nih.gov/pubmed/36262955
http://dx.doi.org/10.7759/cureus.29265
Descripción
Sumario:A 37-year-old woman presented in the emergency room with abdominal pain and nausea for about three weeks. She had no known risk factors for venous thromboembolism beyond taking oral contraceptives as a regular medication. Computed tomography (CT) scan revealed portal, superior mesenteric and splenic vein thrombosis. Thrombophilia tests were negative, except for the presence of heterozygosity for mutation of the methylenetetrahydrofolate reductase (MTHFR) gene. Homocysteine levels and folic acid were normal. Anticoagulation was started. Follow-up CT after eight months showed cavernous transformation of the portal vein.

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