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Hereditary thrombophilia and hypofibrinolysis in a family with multiple prothrombotic risk factors – a case report

Thrombophilia, an increased tendency to develop thrombosis, and hypofibrinolysis, a reduced ability to lyse thrombi, may be concomitant hereditary disorders. Having more than one inherited thrombophilia risk factors greatly increases the risk of developing a potentially dangerous blood clot. Reduced plasma fibrinolytic potential is additional risk factor for venous thrombosis. We report a case of 17-year old girl with a family history of multiple deep venous thrombosis, pulmonary embolisms and miscarriages. She was on oral contraceptives when she got left sided ileofemoral thrombosis and bilateral pulmonary embolism. She was anti-coagulated with low molecular weight heparin (LMWH) for 1 week followed by oral anticoagulant Marivarin (warfarin). Complete resolution of thrombosis by Ultrasound Doppler analysis was registered after 12 months. Patient's thrombophilia tests and tests of family members, including genetic polymorphisms of prothrombotic risk factors were done. Multiple mutations including factor V Leiden, prothrombin, methylenetetrahydrofolate reductase (MTHFR) and plasminogen activator inhibitor-1 (PAI-1) were found. The patient is presently asymptomatic on long term follow up of over 3 years with oral anticoagulation, targeting an international normalized ratio (INR) of 2.5.

hereditary thrombophilia; oral contraceptive; adolescent

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