n Medical Technology SA - Triple heterozygous thrombophilic Mutations : a family study : peer reviewed case study




Thrombophilia is a disorder with a complex and little understood pathogenesis which can be either genetically inherited or acquired. Consequences can vary in severity from DVT to life threatening thromboembolism. The inherited thrombophilic mutations (Factor V Leiden, Methylenetetrahydrofolate reductase (MTHFR) and Prothrombin F2G20210A) are the most common ones found in Caucasian populations. Identification of these mutations and appropriate counselling can prepare affected individuals for the expected clinical course of their condition and influence decision-making on their future management. We report on the approximately 35 year period of thrombotic episodes which led to the final diagnosis in a 58 year old female patient. We describe the course of thrombotic events suffered over this period, her family history and that of her siblings and the testing of their descendants.


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