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
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author Machado, Marcia
Neto, Daniela
Nunes, Silvia
Cunha, Cristina
Fernandes, Carlos
Alves, Glória
Cotter, Jorge
author_facet Machado, Marcia
Neto, Daniela
Nunes, Silvia
Cunha, Cristina
Fernandes, Carlos
Alves, Glória
Cotter, Jorge
author_sort Machado, Marcia
collection PubMed
description 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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spelling pubmed-95761232022-10-18 The Importance of MTHFR C677T/A1298C Combined Polymorphism in Deep Vein Thrombosis: A Case Report Machado, Marcia Neto, Daniela Nunes, Silvia Cunha, Cristina Fernandes, Carlos Alves, Glória Cotter, Jorge Cureus Internal Medicine 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. Cureus 2022-09-17 /pmc/articles/PMC9576123/ /pubmed/36262955 http://dx.doi.org/10.7759/cureus.29265 Text en Copyright © 2022, Machado et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Internal Medicine
Machado, Marcia
Neto, Daniela
Nunes, Silvia
Cunha, Cristina
Fernandes, Carlos
Alves, Glória
Cotter, Jorge
The Importance of MTHFR C677T/A1298C Combined Polymorphism in Deep Vein Thrombosis: A Case Report
title The Importance of MTHFR C677T/A1298C Combined Polymorphism in Deep Vein Thrombosis: A Case Report
title_full The Importance of MTHFR C677T/A1298C Combined Polymorphism in Deep Vein Thrombosis: A Case Report
title_fullStr The Importance of MTHFR C677T/A1298C Combined Polymorphism in Deep Vein Thrombosis: A Case Report
title_full_unstemmed The Importance of MTHFR C677T/A1298C Combined Polymorphism in Deep Vein Thrombosis: A Case Report
title_short The Importance of MTHFR C677T/A1298C Combined Polymorphism in Deep Vein Thrombosis: A Case Report
title_sort importance of mthfr c677t/a1298c combined polymorphism in deep vein thrombosis: a case report
topic Internal Medicine
url 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
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