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 [1] . 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.