Department of Cardiovascular Medicine.
Department of Laboratory Medicine, Uji-Tokushukai Medical Center, Uji, Kyoto, Japan.
Blood Coagul Fibrinolysis. 2020 Jun;31(4):270-273. doi: 10.1097/MBC.0000000000000897.
: The development of pulmonary embolism/deep vein thrombosis (DVT) in the extremities is influenced by various risk factors. Hyperhomocysteinemia is one such risk factor, which may be associated with vitamin B12/folate deficiency, or the methylenetetrahydrofolate reductase gene variant, 677C>T. Here, we report a 47-year-old male who developed pulmonary embolism/DVT, associated with hyperhomocysteinemia (plasma homocysteine: 71.9 nmol/ml; reference range: 6.3-18.9 nmol/ml) and was homozygous (T/T) for the methylenetetrahydrofolate reductase variant. Serum levels of vitamin B12 and folate were within the normal range, while secondary polycythemia (hemoglobin: 18.2 g/dl and hematocrit: 50.8%) may have acted as an additional trigger for the thromboembolism. The pulmonary embolism/DVT was successfully managed and the patient has been doing well for longer than 3 years.
: 下肢深静脉血栓形成/肺栓塞的发生受多种危险因素影响。高同型半胱氨酸血症是其中的一个危险因素，其可能与维生素 B12/叶酸缺乏或亚甲基四氢叶酸还原酶基因变异，677C>T 有关。在此，我们报告了 1 例 47 岁男性，发生了与高同型半胱氨酸血症（血浆同型半胱氨酸：71.9 nmol/ml；参考范围：6.3-18.9 nmol/ml）相关的肺栓塞/深静脉血栓形成，且为亚甲基四氢叶酸还原酶变异的纯合子（T/T）。血清维生素 B12 和叶酸水平处于正常范围，而继发性红细胞增多症（血红蛋白：18.2 g/dl，红细胞压积：50.8%）可能是血栓栓塞的另一个诱因。肺栓塞/深静脉血栓形成得到了成功治疗，患者在 3 年多的时间里一直恢复良好。
