Cui Li, Zhu Lijun, Wang Yuting, Zhang Wuqiong, Fang Shaokuan
Department of Neurology, Neuroscience Center, The First Hospital of Jilin University, Changchun, Jilin 130012, P.R. China.
Department of Neurology, The Third Teaching Hospital of Jilin University, Changchun, Jilin 130021, P.R. China.
Exp Ther Med. 2017 Jun;13(6):3009-3012. doi: 10.3892/etm.2017.4316. Epub 2017 Apr 6.
Thrombophilia may be hereditary or acquired and is associated with a high risk of thrombosis. The diagnosis rate for thrombophilia is low, particularly for patients with non-specific symptoms. The present study describes a patient with thrombophilia, presenting with onset symptoms for intracranial venous thrombosis. The patient had increased serum homocysteine and anticardiolipin immunoglobulin G antibodies and decreased protein S activities. In addition, the patient was obese and had a one-week history of fatigue, immobilization and insufficient water intake. Radiological findings identified multiple venous thrombosis. Since the patient had multiple risk factors for thrombosis, the diagnosis of thrombophilia was made. No mutations with definite clinical significance were identified in the assessments for mutations of the protein S-α (PROS1) gene. The current case highlights the importance of correct diagnosis for thrombophilia in patients who present with the onset symptoms of intracranial venous thrombosis.
易栓症可能是遗传性的或后天获得性的,并且与血栓形成的高风险相关。易栓症的诊断率较低,尤其是对于有非特异性症状的患者。本研究描述了一名患有易栓症的患者,其出现了颅内静脉血栓形成的起始症状。该患者血清同型半胱氨酸和抗心磷脂免疫球蛋白G抗体升高,蛋白S活性降低。此外,该患者肥胖,有一周的疲劳、制动和饮水不足病史。影像学检查发现多处静脉血栓形成。由于该患者有多种血栓形成的危险因素,故诊断为易栓症。在对蛋白S-α(PROS1)基因的突变评估中未发现具有明确临床意义的突变。本病例强调了对出现颅内静脉血栓形成起始症状的患者进行易栓症正确诊断的重要性。