Enfermedad trombótica y resistencia a la Warfarina relacionada con alteración genética. Reporte de caso

Abstract

Introduction: Warfarin resistance is a significant clinical issue in patients with thrombotic diseases as it increases the risk of recurrent thrombosis. This phenomenon can be genetic, associated with polymorphisms in the VKORC1 and CYP2C9 genes, which complicates achieving adequate anticoagulation control. Case Presentation: This case involves a 48-year-old female patient with recurrent deep vein thrombosis since 2001. Control was not achieved despite several attempts to adjust the warfarin dose. In 2015, the VKORC1 gene polymorphism was identified as the genetic cause of the patient's warfarin resistance. She was subsequently diagnosed with antiphospholipid syndrome, and treatment was started with enoxaparin, followed by rituximab and dabigatran, which successfully prevented further thrombotic episodes. Conclusions: This case emphasizes the importance of genetic evaluation in patients with coumarin resistance, as it assists in selecting the appropriate anticoagulant therapy and prevents potentially life-threatening complications in the future. Furthermore, proper management also includes using alternative anticoagulants and regular follow-up. Pharmacogenetics is relevant in drug resistance in thrombotic diseases, optimizing treatment, safety, and therapy efficacy.