Rheumatology, Cincinnati Children's Hospital Medical Center Burnet Campus, Cincinnati, Ohio, USA.
Rheumatology, Cincinnati Children's Hospital Medical Center Burnet Campus, Cincinnati, Ohio, USA
RMD Open. 2023 Jan;9(1). doi: 10.1136/rmdopen-2022-002611.
Macrophage activation syndrome (MAS) is a subtype of haemophagocytic lymphohistiocytosis (HLH), and a well-described complication of systemic juvenile idiopathic arthritis (SJIA), triggered by disease onset or flare, infection, or some medications. Here, we report a 20-year-old man with previously well-controlled SJIA, who developed first time MAS after acute Epstein-Barr virus (EBV) infection, with MAS recurrence due to a drug reaction, '3-week sulfasalazine syndrome', secondary to prophylactic trimethoprim/sulfamethoxazole. Both episodes of MAS were minimally responsive to pulse corticosteroids. Initial EBV-driven MAS was treated with multiple doses of emapalumab prior to resolution, while MAS secondary to sulfasalazine-induced 3-week syndrome required the initiation of ruxolitinib. This case exhibits two rare but life-threatening causes of MAS/secondary HLH in a single patient and the difficulties in their diagnosis and management.
巨噬细胞活化综合征 (MAS) 是噬血细胞性淋巴组织细胞增生症 (HLH) 的一个亚型，也是全身幼年特发性关节炎 (SJIA) 的一种常见并发症，可由疾病发作或加重、感染或某些药物引发。在此，我们报告了一例 20 岁男性，此前 SJIA 控制良好，在急性 EBV 感染后首次发生 MAS，因药物反应（“3 周柳氮磺胺吡啶综合征”）继发于预防性甲氧苄啶/磺胺甲恶唑而出现 MAS 复发。两次 MAS 发作对脉冲皮质类固醇反应均不明显。最初的 EBV 驱动的 MAS 在缓解前用多次剂量的emapalumab 治疗，而继发于柳氮磺胺吡啶引起的 3 周综合征的 MAS 需要开始使用 ruxolitinib。该病例在单个患者中表现出两种罕见但危及生命的 MAS/继发性 HLH 病因，以及在诊断和治疗方面的困难。
