诊断困境：1例血清阴性灾难性抗磷脂综合征

Diagnostic Dilemma: A Case of Seronegative Catastrophic Antiphospholipid Syndrome

摘要: 常规抗体检测阴性的灾难性抗磷脂综合征(SN-CAPS)作为APS的特殊临床亚型，具有起病急、预后差、易误诊漏诊等特点。其病理特征表现为广泛的血管内血栓形成伴多器官功能进行性损害。本文报道了1例26岁青年女性患者，临床表现为自发性颅内出血、进行性血小板降低及多发性血管栓塞，累及脑、肺、肝等多器官系统。经神经外科、风湿免疫科、肿瘤科及ICU联合诊治，采用大剂量免疫球蛋白冲击、甲泼尼龙琥珀酸钠脉冲疗法结合普通肝素抗凝等综合干预后，患者各系统功能逐步恢复。该病例启示：(1) 对于疑似但常规抗体阴性的血栓性疾病，应扩展抗体检测范围；(2) 早期经验性免疫抑制治疗联合抗凝可能改善预后；(3) 建立多学科诊疗流程对提高这类疑难病例的诊治水平具有重要价值。

Abstract: Catastrophic antiphospholipid syndrome (SN-CAPS) with negative conventional antibody testing, as a special clinical subtype of APS, has the characteristics of rapid onset, poor prognosis, and easy misdiagnosis and missed diagnosis. Its pathological features are characterized by extensive intravascular thrombosis with progressive damage to multiple organ functions. This article reports a case of a 26-year-old young female patient with clinical manifestations of spontaneous intracranial hemorrhage, progressive thrombocytopenia, and multiple vascular thrombosis, involving multiple organ systems such as the brain, lungs, and liver. After joint diagnosis and treatment in neurosurgery, rheumatology and immunology, oncology, and ICU, comprehensive interventions such as high-dose immunoglobulin shock therapy, methylprednisolone sodium succinate pulse therapy, and unfractionated heparin anticoagulation were used. The patient’s various system functions gradually recovered. This case suggests that: (1) for suspected thrombotic diseases that are negative for conventional antibodies, the scope of antibody testing should be expanded; (2) Early empirical immunosuppressive therapy combined with anticoagulation may improve prognosis; (3) Establishing a multidisciplinary diagnosis and treatment process is of great value in improving the diagnosis and treatment level of such difficult cases.