Department of Rheumatology, Tianshui Hospital of Traditional Chinese Medicine, Tianshui, China.
Department of Rheumatology, Guang'anmen Hospital, China Academy of Chinese Medical Sciences, Beijing, China.
Pediatr Rheumatol Online J. 2023 Sep 21;21(1):106. doi: 10.1186/s12969-023-00893-w.
Macrophage activation syndrome (MAS) is a severe and life-threatening syndrome associated with autoimmune diseases. The coexistence of MAS and juvenile dermatomyositis (JDM) is not well reported. This report describes a case of JDM with MAS and summarizes the clinical characteristics and prognosis of MAS in patients with JDM.
The patient was a 15-year-old female with JDM, presenting with heliotrope rash, muscle weakness, increased muscle enzyme, anti-nuclear matrix protein 2 (NXP2) antibody, and muscle biopsy consistent with JDM. The patient developed fever, cytopenia, and hyperferritinemia three months after the first manifestations. Hemophagocytosis was found in the bone marrow. The final diagnosis was JDM combined with MAS. Despite intensive treatment, the patient died of MAS. By reviewing the literature, we found 17 similar cases. Together with the present case, 18 patients were identified, the median age of disease onset was 13.5 years, and male to female ratio was 1.25: 1. Nine out of 16 (56.3%) patients were complicated with interstitial lung disease (ILD). The median time interval between JDM onset and MAS diagnosis was 9 weeks. At the onset of MAS, all (100%) patients had elevated levels of ferritin and serum liver enzymes. Among 18 patients, 14 (77.8%) had fever, 14/17 (82.4%) had cytopenia, 11/11 (100%) had hepatosplenomegaly, and 13/14 (92.9%) had hemophagocytosis. Five (27.8%) patients showed central nervous system (CNS) involvement. The mortality of MAS rate of in patients with JDM was 16.7%, despite various treatment methods.
. The coexistence of JDM and MAS is underestimated with increased mortality. Hepatosplenomegaly and increased serum levels of ferritin in patients with JDM should raise clinical suspicion for MAS.
巨噬细胞活化综合征（MAS）是一种与自身免疫性疾病相关的严重且危及生命的综合征。MAS 与幼年特发性皮肌炎（JDM）共存的情况并不常见。本报告描述了一例 JDM 合并 MAS 的病例，并总结了 JDM 患者 MAS 的临床特征和预后。
患者为 15 岁女性，患有 JDM，表现为蝶形红斑、肌肉无力、肌酶升高、抗核基质蛋白 2（NXP2）抗体阳性和符合 JDM 的肌肉活检。首次表现后 3 个月，患者出现发热、血细胞减少和高铁蛋白血症。骨髓中发现噬血细胞现象。最终诊断为 JDM 合并 MAS。尽管进行了强化治疗，患者仍死于 MAS。通过文献回顾，我们发现了 17 例类似病例。加上本病例，共 18 例患者被确诊，发病年龄中位数为 13.5 岁，男女比例为 1.25:1。16 例（56.3%）患者并发间质性肺病（ILD）。JDM 发病与 MAS 诊断之间的中位时间间隔为 9 周。在 MAS 发病时，所有（100%）患者的铁蛋白和血清肝酶水平均升高。在 18 例患者中，14 例（77.8%）有发热，14/17（82.4%）有血细胞减少，11/11（100%）有肝脾肿大，13/14（92.9%）有噬血细胞现象。14/15（93.3%）有肝功能异常。5 例（27.8%）患者出现中枢神经系统（CNS）受累。尽管采用了各种治疗方法，JDM 患者 MAS 的死亡率仍为 16.7%。
JDM 合并 MAS 被低估，死亡率增加。JDM 患者出现肝脾肿大和血清铁蛋白水平升高应引起对 MAS 的临床怀疑。
