Division of Pulmonary and Critical Care Medicine, Susan Pearlstine Sarcoidosis Center of Excellence, Medical University of South Carolina, Charleston, South Carolina.
Semin Respir Crit Care Med. 2020 Oct;41(5):607-617. doi: 10.1055/s-0040-1713008. Epub 2020 Aug 10.
Sarcoidosis is a multisystem inflammatory disease characterized by noncaseating granulomatous inflammation. While pulmonary sarcoidosis is most common, extrapulmonary involvement occurs in 50 to 74% of patients and can be the presenting abnormality in some patients. The diagnosis of sarcoidosis is based on a compatible clinical presentation in combination with granulomas on histology and exclusion of other causes. However, the absence of a diagnostic biomarker for sarcoidosis, in addition to the overlap of granulomatous inflammation and nonspecific clinical findings with other diseases, often results in a delayed diagnosis. Sarcoidosis overlap syndromes are typically described when sarcoidosis is diagnosed in the presence of another disease (concurrently or sequentially) with shared clinical and histologic features, or when sarcoidosis presents with clinical features typically observed in, but not diagnostic of, other diseases. Awareness of overlap syndromes is important for clinicians to avoid diagnostic errors and evaluate for concomitant diagnoses that may impact the management and outcome of sarcoidosis. This article is intended to provide an overview of these presentations and the most commonly associated diseases, with attention to their prevalence, clinical features, and reciprocal impacts on disease outcomes.
结节病是一种多系统炎症性疾病，其特征为非干酪样肉芽肿炎症。虽然肺结节病最为常见，但 50%~74%的患者存在肺外受累，且在某些患者中可作为首发异常。结节病的诊断基于临床表现与组织学上的肉芽肿一致，并排除其他原因。然而，由于缺乏结节病的诊断生物标志物，再加上肉芽肿炎症和非特异性临床表现与其他疾病之间存在重叠，常常导致诊断延迟。当在另一种疾病（同时或先后）存在时诊断为结节病，且具有共同的临床和组织学特征，或者当结节病表现出通常见于但不能确诊为其他疾病的临床特征时，通常会描述结节病重叠综合征。临床医生了解重叠综合征很重要，可避免诊断错误，并评估可能影响结节病管理和结局的同时存在的诊断。本文旨在概述这些表现形式以及最常相关的疾病，重点关注其患病率、临床特征以及对疾病结局的相互影响。
