Erdheim-Chester病(ECD)是一种罕见的克隆性组织细胞肿瘤,迄今记录的病例少于1200例。这种疾病危及生命,难以识别,尽管提高了意识以及临床的整合,成像,病理信息,和遗传研究导致最近新报告病例呈指数增长。ECD影响多个器官和系统,包括骨骼,神经学,和心血管。肺,肺腹膜后,和皮肤病变也有各种组合的报道。直到发现超过一半的ECD患者在有丝分裂原活化蛋白激酶(MAPK)和RAS途径中存在BRAF-V600E突变或其他突变,干扰素-a是一线治疗。如今,BRAF和MEK抑制剂靶向治疗是治疗的主要手段。眼科受累发生在25%-30%的ECD病例中,通常以眼眶受累的形式表现为眼球突出和眼肌麻痹。其他眼科表现包括眼睑窦瘤,前葡萄膜炎和玻璃体炎,视神经盘水肿,脉络膜浸润,复发性浆液性视网膜脱离,视网膜玻璃疣样沉积和视网膜色素上皮改变。由于治疗方案的不利影响,ECD患者还可呈现眼部症状。在一些有阴燃或变形蛋白症状的病例中,眼部表现的出现触发了诊断。眼科医生必须意识到这种疾病,认识到ECD症状的星座,并有助于诊断,治疗,并对ECD患者进行随访。
Erdheim-Chester disease (
ECD) is a rare clonal histiocytic neoplasm with less than 1200 documented cases to date. The disease is life-threatening and difficult to recognize, although increasing awareness as well as the integration of clinical, imaging, pathology information , and genetic studies have led to a recent exponential increase in new reported cases.
ECD affects multiple organs and systems, including skeletal, neurologic, and cardiovascular. Pulmonary, retroperitoneal, and cutaneous lesions have also been reported in various combinations. Until the discovery that more than half of
ECD patients harbor the BRAF-V600E mutation or other mutations in the mitogen-activated protein kinase (MAPK) and RAS pathways, Interferon-a was the first-line treatment. Nowadays BRAF and MEK-inhibitors targeted therapies are the mainstay of treatment. Ophthalmologic involvement occurs in 25% -30% of
ECD cases, usually in the form of orbital involvement presenting with exophthalmos and ophthalmoplegia. Other ophthalmologic manifestations include palpebral xanthelasmas, anterior uveitis and vitritis, optic disk edema, choroidal infiltration, recurrent serous retinal detachment, retinal drusen-like deposits and retinal pigment epithelial changes. ECD patients can also present with ocular symptoms as a result of adverse effects of the treatment regimens. In some cases with smoldering or protean symptoms, the emergence of eye manifestations triggered the diagnosis. Ophthalmologists have to be aware of the disease, recognize the constellation of ECD symptoms, and contribute to the diagnosis, treatment, and follow-up of
ECD patients.