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Abstract：
Catastrophic antiphospholipid syndrome (CAPS) is a life-threatening form of antiphospholipid syndrome characterised by diffuse arterial and venous thrombosis, in the presence of positive antiphospholipid antibodies. The multiple sites of thrombosis in small, medium and large vessels progress to multiorgan failure, accounting for the high mortality rate associated with CAPS. Unregulated complement activation is increasingly recognised as critical to the pathogenesis of CAPS. Early diagnosis is essential to initiate prompt life-saving treatment with the triple therapy of anticoagulation, immunosuppression and either plasmapheresis or intravenous immunoglobulin. Among other immunosuppressive agents, eculizumab, a complement inhibitor has demonstrated efficacy in treatment-resistant cases.We report an instructive case of a woman presenting with both clinical and laboratory findings consistent with primary CAPS, resistant to initial treatment and responsive to eculizumab, with emphasis on genetic testing and implications for future therapy.
摘要：
灾难性抗磷脂综合征（CAPS）是一种威胁生命的抗磷脂综合征，其特征是弥漫性动脉和静脉血栓形成，在抗磷脂抗体阳性的情况下。血栓形成的多个部位小，中型和大型血管进展为多器官衰竭，考虑与CAPS相关的高死亡率。不受调节的补体激活越来越被认为对CAPS的发病机理至关重要。早期诊断对于采用抗凝三联疗法进行迅速挽救生命的治疗至关重要。免疫抑制和血浆置换或静脉注射免疫球蛋白。在其他免疫抑制剂中，依库珠单抗,补体抑制剂已证明在治疗耐药病例中有效.我们报告了一个有指导意义的案例，即一名妇女的临床和实验室检查结果均与主要CAPS一致，对初始治疗有抗性，对依库珠单抗有反应，重点是基因检测和对未来治疗的影响。
