Department of Nephrology, St Vincent's Hospital Melbourne Pty Ltd, Fitzroy, Victoria, Australia
Department of General Medicine, St Vincent's Hospital Melbourne Pty Ltd, Fitzroy, Victoria, Australia.
BMJ Case Rep. 2024 Mar 5;17(3):e254449. doi: 10.1136/bcr-2022-254449.
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.
灾难性抗磷脂综合征(CAPS)是一种危及生命的抗磷脂综合征形式,其特征是存在阳性抗磷脂抗体时出现弥漫性动脉和静脉血栓形成。小、中、大血管中的多处血栓形成进展为多器官衰竭,这也是 CAPS 相关高死亡率的原因。越来越多的研究表明,补体激活失调是 CAPS 发病机制的关键。早期诊断对于启动及时的救命治疗至关重要,治疗方法为三联疗法,包括抗凝、免疫抑制以及血浆置换或静脉注射免疫球蛋白。在其他免疫抑制剂中,补体抑制剂依库珠单抗在治疗抵抗的病例中显示出疗效。我们报告了一例女性病例,其临床表现和实验室检查均符合原发性 CAPS,对初始治疗有耐药性,对依库珠单抗有反应,重点介绍了基因检测及其对未来治疗的影响。