演題詳細

ポスター / Poster

ポスター 38 (Poster 38) :血栓症・その他 (Thrombosis and Others)

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日程
2013年10月11日(金)
時間
16:50 - 17:50
会場
ポスター会場 / Poster (ロイトン札幌 3F ロイトンホールABCD)
座長・司会
小嶋 哲人 (Tetsuhito Kojima):1
1:名古屋大学大学院医学系研究科
 
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Recurrent venous thrombosis triggered off the diagnosis of homocystinuria: A case report

演題番号 : PS-1-289

林 朋恵 (Tomoe Hayashi):1、太田 嗣人 (Tsuguhito Ota):2、門平 靖子 (Yasuko Kadohira):1、森下 英理子 (Eriko Morishita):1、朝倉 英策 (Hidesaku Asakura):1、中尾 眞二 (Shinji Nakao):1

1:Division of Hematology, Kanazawa University Hospital, Japan、2:Division of Endocrinology and Metabolism, Kanazawa University Hospital, Japan

 

[Background] Homocystinuria is an autosomal recessive inborn error complicated with venous thrombosis in about half of patients. Here we report a case of cerebral sinus thrombosis and pulmonary infarction by undiagnosed homocystinuria. [Case] A 21-year-old man was referred to our department for detailed examination about his thrombotic tendency. He had a history of ectopia lentis, cerebral venous sinus thrombosis, and pulmonary infarction. On examination, he had marfanoid features and dyed white hair with mild mental retardation. He denied anyone in his family having similar problems. Laboratory examination revealed macrocytosis and severe hyperhomocysteinemia (357.7nmol/mL). Blood coagulation markers such as D-dimer, TAT, and SF were normal. Thrombodynamic Potential Index determined by thrombelastography was high. As a result of further evaluation at the endocrinology and metabolism department, he was found to have type I homocystinuria caused by a cystathionine-beta-synthetase defect. He started methionine restricted diets and betaine therapy. It was decided to keep him on long term anticoagulation therapy.[Conclusion] We report the case of a young man who suffered from recurrent thrombosis due to hyperhomocysteinemia. We should keep in mind that hyperhomocysteinemia would be a cause of thrombotic tendency.

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