Thrombophilia and thromboembolic disease. A case report]

Congenital thrombophilia, specifically thrombophilia due to Leiden modified factor V as the cause of thromboembolic disease, is discussed. Thromboembolic disease is potentially fatal and disabling. A clinical case is presented of a girl of 15 with Leiden factor V thrombophilia in which all the typical thromboembolic events occurred: superficial thrombophlebitis, rapidly developing deep venous thrombosis of an extremity and ischaemic arterial thrombosis of the distal arterial trunk of the same extremity. Systemic thrombolytic therapy done quickly cleared up the acute phase of the thromboembolic event without it being necessary to resort to thrombectomy and prevented post-thrombotic sequelae involving the extremity.