Miyagawa Ippei, Nakayamada Shingo, Nohara Hirotsugu, Kosaka Shumpei, Ueno Masanobu, Tanaka Yoshiya
The First Department of Internal Medicine, School of Medicine, University of Occupational and Environmental Health, Japan, Kitakyushu, Japan.
Department of Pathology and Oncology, University of Occupational and Environmental Health, Japan, Kitakyushu, Japan.
Mod Rheumatol Case Rep. 2025 Jul 25;9(2). doi: 10.1093/mrcr/rxae086.
The patient was a 57-year-old man who developed bilateral thigh pain and chest tightness 1 year ago. Chest computed tomography (CT) scan showed reticular shadows, thickened interlobular septa in both lung fields, and pericardial effusion. Three months ago, his symptoms worsened. A contrast CT scan revealed increased pericardial effusion, multiple masses in the right atrium, soft tissue shadows suggestive of retroperitoneal fibrosis, and soft tissue shadows around the thoracic and abdominal aorta. He visited University Hospital of University of Occupational and Environmental Health, Japan suspecting IgG4-related disease (IgG4-RD) or large vessel vasculitis (LVV). Based on the involvement of various organs and bilateral thigh pain, Erdheim-Chester disease (ECD) was suspected, and an 18F-fluorodeoxyglucose Positron Emission Tomography (FDG-PET) scan was performed. In addition to increased accumulation around the right ventricle, right coronary artery, and aorta, increased accumulation was confirmed in the distal femurs and proximal tibias on both sides, strongly suggesting ECD. A bone biopsy confirmed the diagnosis of ECD, showing bone fibrosis with CD68-positive and CD1a-negative foam cell infiltration, which is a characteristic of ECD. ECD is an extremely rare form of non-Langerhans cell histiocytosis. ECD affects a wide variety of organs, and its imaging findings can sometimes resemble those of IgG4-related disease or LVV. However, bone lesions are characteristic of ECD and are a key finding for its diagnosis. When systemic organ lesions, including bone lesions, are present, ECD should be included in the differential diagnosis, and PET-CT should be considered.
患者为一名57岁男性，1年前出现双侧大腿疼痛和胸闷。胸部计算机断层扫描（CT）显示双肺野有网状阴影、小叶间隔增厚以及心包积液。3个月前，他的症状加重。增强CT扫描显示心包积液增加、右心房有多个肿块、提示腹膜后纤维化的软组织阴影以及胸主动脉和腹主动脉周围的软组织阴影。他因怀疑IgG4相关疾病（IgG4-RD）或大血管血管炎（LVV）就诊于日本职业与环境卫生大学医院。基于多个器官受累及双侧大腿疼痛，怀疑为 Erdheim-Chester 病（ECD），并进行了18F-氟脱氧葡萄糖正电子发射断层扫描（FDG-PET）。除右心室、右冠状动脉和主动脉周围放射性摄取增加外，双侧股骨远端和胫骨近端也证实有放射性摄取增加，强烈提示ECD。骨活检确诊为ECD，显示骨纤维化伴CD68阳性和CD1a阴性泡沫细胞浸润，这是ECD的特征。ECD是一种极其罕见的非朗格汉斯细胞组织细胞增多症形式。ECD可累及多种器官，其影像学表现有时可类似于IgG4相关疾病或LVV。然而，骨病变是ECD的特征性表现，也是其诊断的关键依据。当存在包括骨病变在内的全身器官病变时，鉴别诊断应考虑ECD，并应考虑进行PET-CT检查。
