背景:巨噬细胞激活综合征(MAS),或继发性噬血细胞淋巴细胞增多症(sHLH),是一种罕见的全身炎症反应综合征,是致命的。成人患者缺乏明确的诊断和治疗标准,主要来自儿童家庭噬血细胞淋巴细胞增多症和系统性幼年特发性关节炎(sJIA)相关MAS的治疗指南和方案或回顾性病例报告。作为sHLH的一个亚型,MAS有像sHLH这样的临床表现,但治疗方法各不相同。在这里,我们报道一例40岁女性由结缔组织疾病引起的MAS.
方法:患者就诊于风湿病学和免疫学门诊,反复发热和皮疹,MAS在一系列检查后得到确认。患者经JAK抑制剂治疗后无明显疗效,但是在使用IL-6抑制剂托珠单抗后,发烧和皮疹明显减少,实验室指标恢复到正常水平。
方法:考虑到患者的病情和实验室检查结果,我们判断患者患有MAS的结缔组织疾病。
方法:我们给予托珠单抗序贯治疗。
结果:当患者在门诊接受监测时,所有指标大多恢复正常。
结论:MAS/HLH在成人患者中缺乏明确的诊断或治疗标准,并且极难与细菌性脓毒症或其他全身性炎症反应综合征区分。因此,早期诊断和治疗对于提高患者生存率是必不可少的。
BACKGROUND: Macrophage activation syndrome (MAS), or secondary hemophagocytic
lymphocytosis (sHLH), is a rare systemic inflammatory response syndrome that is fatal. Adult patients lack clear criteria for diagnosis and treatment, primarily derived from guidelines and protocols for treating family hemophagocytic
lymphocytosis and systemic juvenile idiopathic arthritis (sJIA)-related MAS in children or from retrospective
case reports. As a subtype of sHLH, MAS has a clinical presentation like sHLH, but treatment varies. Herein, we report the
case of a 40-year-old female with MAS caused by a connective tissue disease.
METHODS: The patient presented to the Rheumatology and Immunology Clinic with recurrent fever and rash, and MAS was confirmed after a series of examinations. The patient had no significant effect after treatment with JAK inhibitors, but after the use of the IL-6 inhibitor tocilizumab, the fever and rash were significantly reduced, and laboratory indicators returned to normal levels.
METHODS: Considering the patient\'s condition and laboratory test results, we judged that the patient had connective tissue disease with MAS.
METHODS: We gave sequential treatment of tocilizumab.
RESULTS: ALL indicators are mostly back to normal when the patient was monitored at the outpatient clinic.
CONCLUSIONS: MAS/HLH lacks clear criteria for diagnosis or treatment in adult patients and is extremely difficult to distinguish from bacterial sepsis or other systemic inflammatory response syndromes. Consequently, early diagnosis and treatment are indispensable for enhancing patient survival.