Multiple Major Thrombo-Embolic Events, including Stroke, in a Patient with Combined Congenital Anti-Thrombin III Deficiency and MTHFR Homozygous Mutation  

作　　者：Islam I. Zaid Nora I. Abbas Ehab Shaker Foad Abd-Allah 

机构地区：[1]Departement of Neurology, Faculty of Medicine, Cairo University, Cairo, Egypt [2]Departement of Critical Care Medicine, Faculty of Medicine, Cairo University, Cairo, Egypt

出　　处：《World Journal of Cardiovascular Diseases》2017年第3期71-78,共8页心血管病（英文）

摘　　要：We report a case of a young male patient suffering from congenital Anti-Thrombin III (AT III) deficiency, presented with four major thrombotic events. These events were acute coronary syndrome (Non-ST elevation myocardial infarction), cerebral infarction, peripheral acute upper limb (UL) ischemia and bilateral extensive deep venous thrombosis. The latter two developed despite that the patient was receiving full anticoagulation therapy. His International normalized ratio (INR) was 2.5. Eventually, the patient developed pulmonary embolism and died. He had a prominent family history of thrombotic events. Screening for AT III deficiency in young patients with thrombotic event (thrombophilia) is essential especially those having family history of the latter. This is justified as thrombotic events may occur in up to 80% of these patients. Our patient with 4 major thrombotic events ending in fatality in less than 1 month deserves the nomenclature.We report a case of a young male patient suffering from congenital Anti-Thrombin III (AT III) deficiency, presented with four major thrombotic events. These events were acute coronary syndrome (Non-ST elevation myocardial infarction), cerebral infarction, peripheral acute upper limb (UL) ischemia and bilateral extensive deep venous thrombosis. The latter two developed despite that the patient was receiving full anticoagulation therapy. His International normalized ratio (INR) was 2.5. Eventually, the patient developed pulmonary embolism and died. He had a prominent family history of thrombotic events. Screening for AT III deficiency in young patients with thrombotic event (thrombophilia) is essential especially those having family history of the latter. This is justified as thrombotic events may occur in up to 80% of these patients. Our patient with 4 major thrombotic events ending in fatality in less than 1 month deserves the nomenclature.

关 键 词：THROMBOPHILIA THROMBOSIS CONGENITAL AT III DEFICIENCY STROKE ACUTE Coronary Syndrome Deep Venous THROMBOSIS ACUTE Limb Ischemia 

分 类 号：R5[医药卫生—内科学]