The multifaceted clinical presentations and manifestations of Erdheim-Chester disease: comprehensive review of the literature and of 10 new cases
The multifaceted clinical presentations and manifestations of Erdheim-Chester disease: comprehensive review of the literature and of 10 new cases
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DOI：
10.1136/annrheumdis-2012-202542
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发表时间：
2013-10-01
影响因子：
27.4
通讯作者：
Dagna, Lorenzo
中科院分区：
文献类型：
--
作者：
Cavalli, Giulio;Guglielmi, Barbara;Dagna, Lorenzo
目的Erdheim-Chester病（ECD）是一种罕见的以非郎格罕组织细胞浸润器官为特征的炎症性疾病。虽然罕见，但ECD显然是一个被忽视的诊断。没有数据专门解决最常见的介绍ECD在发病时在一个大的队列patients.MethodsWe回顾了所有已发表的情况下，在英语文献中的组织学证实的ECD。我们排除了关于发病和诊断的数据不明确的报告，以及相同病例的重复报告。我们还在分析中纳入了来自我们队列的10例新的未发表患者。我们分析了疾病的介绍，特别是关于诱导患者就医及其随后evolution.ResultsIn累积队列的259例，ECD主要表现为骨骼症状，尿崩症，神经和体质症状的表现。尿崩症和全身性症状，如果在发病时不存在，似乎很少发展。不同年龄组的patients.ConclusionsPhysicians之间的ECD的介绍和课程有差异，应该知道非常异质性的临床表现和表现的ECD，以包括ECD在几个条件的鉴别诊断。
ObjectivesErdheim-Chester disease (ECD) is a rare inflammatory disorder characterised by organ infiltration by non-Langerhans' histiocytes. Although rare, ECD is clearly an overlooked diagnosis. No data specifically addressing the most frequent presentations of ECD at the time of onset in a large cohort of patients are currently available.MethodsWe reviewed all the published cases in the English literature of histologically-confirmed ECD. We excluded reports in which data regarding onset and diagnosis were not univocal, as well as repeated reports of the same case(s). We also included in the analysis 10 new unpublished patients from our cohort. We analysed the disease presentation with particular regard to the manifestations that induced patients to seek medical attention and their subsequent evolution.ResultsIn the cumulative cohort of 259 cases, ECD predominantly presented with skeletal symptoms, diabetes insipidus, neurological and constitutional symptoms. Diabetes insipidus and constitutional symptoms, if not present at onset, seemed to only seldom develop. There were differences in ECD presentation and course among different age groups of patients.ConclusionsPhysicians should be aware of the extraordinarily heterogeneous clinical presentations and manifestations of ECD in order to include ECD in the differential diagnosis of several conditions.