Department of Pathology and Oncology, School of Medicine, 13137University of Occupational and Environmental Health, Japan.
Department of Pediatrics, School of Medicine, 13137University of Occupational and Environmental Health, Japan.
Lupus. 2022 Oct;31(11):1385-1393. doi: 10.1177/09612033221118819. Epub 2022 Aug 7.
Catastrophic antiphospholipid syndrome (CAPS) is a severe variant of antiphospholipid syndrome associated with multiorgan thrombosis in a short term. We present the case of a 14-year-old immunocompetent girl who developed renal, intestinal, and pulmonary infarction; thrombocytopenia; and hemolytic anemia within 1 week. She was diagnosed with thrombotic microangiopathy. Hence, plasma exchange and corticosteroid therapy were initiated, which improved thrombocytopenia. However, the patient's platelet count decreased. Her general condition gradually worsened with eventual death. An autopsy revealed multiple infarctions in the kidneys bilaterally, jejunum, ileum, and pulmonary parenchyma. Microthrombi were not detected. Massive hemophagocytosis was observed in the splenic pulp, lymph nodes, and bone marrow. Several Epstein-Barr viruses (EBVs)-encoded small ribonucleic acid (RNA)-positive lymphocytes were also found in the bone marrow. The presence of antibodies to both viral capsid antigen-immunoglobulin G and EBV nuclear antigen indicated past infection. Antiphospholipid antibody was positive after her death. The patient was finally diagnosed with CAPS and EBV-associated hemophagocytosis, possibly due to EBV reactivation. Establishing a clinical diagnosis of CAPS was relatively difficult because two different causes of thrombocytopenia, CAPS and hemophagocytosis, led to a difficulty in understanding this case's pathogenesis.
灾难性抗磷脂综合征 (CAPS) 是一种严重的抗磷脂综合征变异型,与短期内多器官血栓形成有关。我们报告了一例 14 岁免疫功能正常的女孩,她在 1 周内发生了肾、肠和肺梗死;血小板减少;和溶血性贫血。她被诊断为血栓性微血管病。因此,开始进行血浆置换和皮质类固醇治疗,这改善了血小板减少。然而,患者的血小板计数下降。她的一般情况逐渐恶化,最终死亡。尸检显示双侧肾脏、空肠、回肠和肺实质多处梗死。未发现微血栓。脾髓、淋巴结和骨髓中观察到大量噬血细胞。骨髓中还发现了几种 Epstein-Barr 病毒 (EBV) 编码的小核糖核酸 (RNA) 阳性淋巴细胞。骨髓中存在抗病毒衣壳抗原免疫球蛋白 G 和 EBV 核抗原的抗体表明过去有感染。患者死后抗磷脂抗体呈阳性。最终诊断为 CAPS 和 EBV 相关噬血细胞,可能是由于 EBV 再激活。CAPS 的临床诊断相对困难,因为两种不同的血小板减少症的原因,CAPS 和噬血细胞,导致对该病例发病机制的理解困难。