Nicolazzi Maria Anna, Carnicelli Annamaria, Fuorlo Mariella, Favuzzi Angela Maria Rita, Landolfi Raffaele
From the Institute of Internal Medicine, Catholic University of Rome, Rome, Italy.
Medicine (Baltimore). 2015 Oct;94(43):e1365. doi: 10.1097/MD.0000000000001365.
Erdheim-Chester disease (ECD) is a rare, multiorgan, non-Langerhans cell histiocytosis of uncertain origin, characterized by systemic xanthogranulomatous infiltration from CD68+CD1a- histiocytes. Skeletal involvement is present in up to 96% of cases with bilateral osteosclerosis of meta-diaphysis of long bones. Furthermore, in more than 50% of cases there is 1 extraskeletal manifestation. In this case report, we describe an interesting case of ECD with an extensive pan-cardiac and vascular involvement, in addition to skeletal, retro-orbital, and retroperitoneum one.A 44-year-old woman with a long history of exophthalmos referred to our hospital for elective surgical orbital decompression. At preoperative examinations a large pericardial effusion was discovered. Echocardiography, computed tomography (CT), and magnetic resonance imaging (MRI) described an inhomogeneous mass involving pericardium and the right heart, abdominal aorta and its main branches and the retroperitoneum, suggestive for a systemic inflammatory disorder. Histological examination on a biopsy sample confirmed the diagnosis of ECD. Radiology showed the pathognomonic long-bone involvement. Surgical orbital decompression was performed and medical therapy with interferon-α (INF-α) was started.Among extraskeletal manifestations of ECD, cardiovascular involvement is often asymptomatic and thus under-diagnosed but linked to poor prognosis. This is why clinician should always look for it when a new case of ECD is diagnosed.
厄尔德海姆-切斯特病（ECD）是一种罕见的、多器官的、起源不明的非朗格汉斯细胞组织细胞增多症，其特征为CD68+CD1a-组织细胞的系统性黄色瘤样浸润。高达96%的病例存在骨骼受累，表现为长骨干骺端双侧骨硬化。此外，超过50%的病例有1种骨骼外表现。在本病例报告中，我们描述了1例有趣的ECD病例，除骨骼、眶后和腹膜后受累外，还广泛累及全心脏和血管。一名有长期眼球突出病史的44岁女性因择期眼眶减压手术转诊至我院。术前检查发现大量心包积液。超声心动图、计算机断层扫描（CT）和磁共振成像（MRI）显示一个不均匀肿块累及心包和右心、腹主动脉及其主要分支以及腹膜后，提示为系统性炎症性疾病。活检样本的组织学检查确诊为ECD。放射学检查显示了典型的长骨受累情况。进行了眼眶减压手术，并开始使用干扰素-α（INF-α）进行药物治疗。在ECD的骨骼外表现中，心血管受累通常无症状，因此诊断不足，但与预后不良有关。这就是为什么临床医生在诊断新的ECD病例时应始终留意这种情况。
