Department of Internal Medicine and French Reference Center for Rare Autoimmune and Systemic Diseases, Assistance Publique-Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Université Pierre et Marie Curie, UPMC Univ Paris 06 cInstitut National de la Santé et de la Recherche Médicale, UMR-S 945, Paris, France.
Curr Opin Rheumatol. 2012 Jan;24(1):53-9. doi: 10.1097/BOR.0b013e32834d861d.
Erdheim-Chester disease (ECD) is a rare, non-Langerhans form of histiocytosis first described in 1930 with a wide range of manifestations. The number of new cases has dramatically increased over the past 10 years because of the better recognition of this condition. The natural evolution is variable, but the spontaneous prognosis is severe. In this review, we describe the relevant clinical, radiological, prognostic, and therapeutic features of this orphan disease.
Compelling evidence demonstrates the efficacy of treatment by interferon alpha (IFNα) which has been reported to be a major independent predictor of survival among ECD patients. Alternative treatments remain to be defined. Recent studies have highlighted the central nervous system involvement as an independent predictor of death. Pathophysiology is better understood with a complex network of cytokines and chemokines and a systemic immune Th-1-oriented perturbation.
ECD, although a rare and orphan disease, has been overlooked and numerous new cases are currently diagnosed because of general better knowledge of this histiocytosis. First-line treatment is IFNα. We have recently described a unique cytokine signature that may provide further clues to understand the pathogenesis of ECD, as well as provide new tools for diagnosis and targeted therapy.
埃勒-当斯切斯特病（ECD）是一种罕见的非朗格汉斯组织细胞增生症，于 1930 年首次描述，临床表现多样。由于对这种疾病的认识不断提高，过去 10 年来新发病例数量急剧增加。其自然演变是可变的，但自发预后严重。在这篇综述中，我们描述了这种罕见疾病的相关临床、放射学、预后和治疗特征。
强有力的证据表明干扰素α（IFNα）治疗的有效性，IFNα 已被报道是 ECD 患者生存的主要独立预测因素。替代治疗仍有待确定。最近的研究强调了中枢神经系统受累是死亡的独立预测因素。随着细胞因子和趋化因子的复杂网络以及全身性免疫 Th1 倾向的改变，发病机制得到了更好的理解。
尽管 ECD 是一种罕见的孤儿病，但由于对这种组织细胞增生症的普遍了解，目前已被忽视，且有大量新病例被诊断出来。一线治疗是 IFNα。我们最近描述了一种独特的细胞因子特征，这可能为进一步了解 ECD 的发病机制提供线索，并为诊断和靶向治疗提供新的工具。
