遗传性抗凝血酶缺乏症合并急性肺栓塞和血小板减少1例报道及文献复习

Hereditary antithrombin deficiency with acute pulmonary embolism and thrombocytopenia:a case report and literature review

目的:阐述遗传性抗凝血酶(AT)缺乏合并急性肺栓塞和血小板减少患者的临床特征、诊疗方法、治疗选择和转归。方法:收集并分析我院诊断的1例遗传性AT缺乏合并急性肺栓塞和血小板减少患者的临床表现、实验室检查、治疗和转归情况。结果:测序发现该患者AT基因外显子存在突变,AT活性下降,给予抗凝治疗后病情好转。结论:临床中,对反复发生静脉血栓栓塞症的患者需要寻找遗传性易栓症危险因素,遗传性AT缺乏症患者预防血栓形成重于血栓治疗。当严重血栓形成合并活动性出血或血小板下降等抗凝禁忌时,临床处理相当棘手,尚无明确的指南可以遵循,需充分权衡利弊。

Objective：To evaluate the clinical characteristics,diagnosis criteria,treatment and prognosis in the patient of hereditary antithrombin（AT）deficiency with acute pulmonary embolism and thrombocytopeni.Method：The clinical characteristics,laboratory examinations,treatment and outcome of a patient diagnosed with hereditary antithrombin deficiency accompanied by acute pulmonary embolism and thrombocytopeni were collected.Result：Gene sequencing data revealed a mutation in exon of AT gene in the patient,with AT activity decreasing.Conclusion：Looking for genetic risk factors for thrombophilia in patients with recurrent venous thromboembolism is needed.Thrombosis prophylaxis is more important than thrombosis treatment in patients with hereditary AT deficiency.We have no specific guideline to follow and should balance the benefits and risks in case of severe thrombosis accompanied by active bleeding,thrombocytopenia or other anticoagulation contraindications.