The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
Curr Opin Rheumatol. 2012 Jan;24(1):113-8. doi: 10.1097/BOR.0b013e32834dd37e.
The deadly macrophage activation syndrome (MAS) constitutes one of the few rheumatologic emergencies. MAS is part of a larger group of diseases referred to as hemophagocytic syndromes that are seen in infections, malignancies, or genetic immunodeficiencies. Because of the clinical similarity of these diseases, many clinicians are tempted to approach them all similarly, both in diagnostic criteria and treatment paradigms. New work in the field suggests that not all hemophagocytic syndromes are equal. We will review the latest literature from both human and murine models related to the diagnosis, etiology, and treatment of hemophagocytic syndromes including MAS.
More specific diagnostic criteria for the different hemophagocytic syndromes are being developed. Animal models suggest at least two different mechanisms by which hemophagocytic syndromes arise: enhanced antigen presentation and excessive Toll-like receptor signaling. Work in humans suggests different cytokine profiles, and different treatment strategies for the variety of hemophagocytic syndromes.
The recent studies reviewed in this article suggest that despite clinical similarities the different hemophagocytic syndromes are indeed likely heterogeneous. Diagnostic criteria and treatment strategies tailored to the underlying disease or genetic context are needed and will hopefully be addressed by future work in this field.
目的综述：致命性的巨噬细胞活化综合征（MAS）是为数不多的风湿学急症之一。MAS 是噬血细胞综合征的一部分，噬血细胞综合征可见于感染、恶性肿瘤或遗传性免疫缺陷。由于这些疾病临床表现相似，许多临床医生倾向于在诊断标准和治疗方案上类似地对待所有疾病。该领域的新研究表明，并非所有噬血细胞综合征都相同。我们将综述有关噬血细胞综合征（包括 MAS）的诊断、病因和治疗的人类和小鼠模型的最新文献。
最近发现：正在制定针对不同噬血细胞综合征的更具体的诊断标准。动物模型提示噬血细胞综合征的发生至少有两种不同的机制：增强的抗原呈递和过度的 Toll 样受体信号。人类的研究提示不同的细胞因子谱和针对各种噬血细胞综合征的不同治疗策略。
总结：本文综述的最近研究表明，尽管临床表现相似，但不同的噬血细胞综合征确实可能具有异质性。需要针对潜在疾病或遗传背景制定量身定制的诊断标准和治疗策略，希望该领域的未来研究能解决这些问题。
