UPMC University Paris 06, institut Pierre-Louis d'épidémiologie et de santé publique, GRC-UPMC 08 (EEMOIS), Sorbonne universités, 75005 Paris, France; Department of Rheumatology, Pitié-Salpêtrière Hospital, AP-HP, 75013 Paris, France.
UPMC University Paris 06, institut Pierre-Louis d'épidémiologie et de santé publique, GRC-UPMC 08 (EEMOIS), Sorbonne universités, 75005 Paris, France; Department of Rheumatology, Pitié-Salpêtrière Hospital, AP-HP, 75013 Paris, France.
Joint Bone Spine. 2018 May;85(3):285-293. doi: 10.1016/j.jbspin.2017.05.011. Epub 2017 May 18.
Adult-onset Still's disease (AOSD) is a rare systemic auto-inflammatory disorder (SAID). Although the pathogenesis of the disease is complex and far from being fully understood, recent progresses in pathophysiological knowledge have paved the way to new diagnostic approaches. Indeed, AOSD diagnosis can be a real challenge, owing to its infrequency, and to the lack of specificity of the principal clinical features (high fever, arthralgia or arthritis, skin rash) and laboratory findings (elevated acute phase reactants, hyperleukocytosis≥10,000 cells/mm with neutrophils≥80%). None of these manifestations is disease-specific, so clinicians must first rule out neoplastic, infectious or inflammatory conditions. Besides these diagnostic difficulties, several other challenges remain. AOSD is very heterogeneous in terms of clinical presentation, evolution and severity. Thus, new biomarkers are required to assess: (i) disease activity; (ii) disease severity (through the identification of patients at risk of severe organ failure, and eventually of life-threatening complications, such as reactive haemophagocytic lymphohistiocytosis); (iii) disease evolution (which can be monophasic, relapsing, or progressive, with either systemic inflammation or chronic erosive arthritis); (iv) and treatment efficacy. The identification of new markers can only be done through a better understanding of the pathogenesis of the disease. After a short focus on the current AOSD pathophysiological knowledge, this article reviews the main biomarkers that have been proposed in the literature over the last few years.
成人Still 病（AOSD）是一种罕见的系统性自身炎症性疾病（SAID）。尽管该疾病的发病机制复杂，远未完全了解，但近年来在病理生理学知识方面的进展为新的诊断方法铺平了道路。事实上，由于其罕见性以及主要临床特征（高热、关节炎或关节痛、皮疹）和实验室发现（升高的急性期反应物、白细胞计数≥10,000 细胞/mm³且中性粒细胞≥80%）缺乏特异性，AOSD 的诊断可能是一个真正的挑战。这些表现均无疾病特异性，因此临床医生必须首先排除肿瘤、感染或炎症性疾病。除了这些诊断困难外，还有其他一些挑战。AOSD 在临床表现、演变和严重程度方面具有很大的异质性。因此，需要新的生物标志物来评估：（i）疾病活动度；（ii）疾病严重程度（通过识别有发生严重器官衰竭风险的患者，以及最终发生危及生命的并发症（如反应性噬血细胞性淋巴组织细胞增生症）的患者）；（iii）疾病演变（可呈单相、复发或进行性，伴有全身炎症或慢性侵蚀性关节炎）；（iv）和治疗效果。只有通过更好地了解疾病的发病机制，才能确定新的标志物。在简要介绍当前 AOSD 病理生理学知识之后，本文综述了近年来文献中提出的主要生物标志物。
