Genetics as a Determinant of Hypercoagulability due to C677T MTHFR Mutation: Presentation of 1 Clinical Case in Colombia

Abstract

Introduction: In recent years, numerous polymorphisms associated with an increased or decreased risk of various forms of thrombotic diseases have been described. One of these mutations of interest is the C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene, which involves the substitution of a cytosine with a thymine at nucleotide 677. This amino acid change results in a thermolabile variant of MTHFR with reduced capacity to metabolize homocysteine, leading to mild to moderate hyperhomocysteinemia.

Case Presentation: We present the following case of a patient from the urban area of Piedecuesta, Santander, with a rare genetic condition involving genetic expression alterations causing the C677T mutation in the methylenetetrahydrofolate reductase gene.

Methods: A forty-year-old male patient with multiple thromboembolic episodes since the age of 22 is presented. He received treatment with warfarin without a response and experienced three new events. Studies ruled out antiphospholipid syndrome.

Results: Genetic studies were conducted, which revealed the presence of the C677T MTHFR mutation.

Conclusions: The prevalence of the C677T MTHFR gene polymorphism is infrequent in our region, and the prevalence in the Latin American population remains unknown. Genetic studies should be considered in cases of atypical thromboembolic events as a potential cause of thromboembolic disease. Currently, the patient is on lifelong nadroparin therapy. His family members are under monitoring with the involvement of genetics and hematology as part of a multidisciplinary approach to management.