Division of Pulmonary, Allergy, Critical Care and Sleep Medicine, and.
Cardiovascular Division, Department of Medicine, University of Minnesota Medical School, Minneapolis, Minnesota; and.
Ann Am Thorac Soc. 2021 Dec;18(12):1935-1947. doi: 10.1513/AnnalsATS.202102-212CME.
Sarcoidosis is a multisystem disease of unknown cause with heterogeneous clinical manifestations and variable course. Spontaneous remissions occur in some patients, whereas others have progressive disease impacting survival, organ function, and quality of life. Four high-risk sarcoidosis phenotypes associated with chronic inflammation have recently been identified as high-priority areas for research. These include treatment-refractory pulmonary disease, cardiac sarcoidosis, neurosarcoidosis, and multiorgan sarcoidosis. Significant gaps currently exist in the understanding of these high-risk manifestations of sarcoidosis, including their natural history, diagnostic criteria, biomarkers, and the treatment strategy, such as the ideal agent, optimal dose, and treatment duration. The use of registries with well-phenotyped patients is a critical first step to study high-risk sarcoidosis manifestations systematically. We review the diagnostic and treatment approach to high-risk sarcoidosis manifestations. Appropriately identifying these disease subgroups will help enroll well-phenotyped patients in sarcoidosis registries and clinical trials, a necessary step to narrow existing gaps in understanding of this enigmatic disease.
结节病是一种病因不明的多系统疾病，具有异质性的临床表现和多变的病程。一些患者会出现自发性缓解，而另一些患者则会出现进展性疾病，影响生存、器官功能和生活质量。最近，人们确定了四种与慢性炎症相关的高风险结节病表型，这些表型作为研究的重点领域。它们包括治疗抵抗性肺疾病、心脏结节病、神经结节病和多器官结节病。目前，人们对这些高风险结节病表现形式的理解还存在很大差距，包括其自然病史、诊断标准、生物标志物以及治疗策略，例如理想的药物、最佳剂量和治疗持续时间。利用具有良好表型患者的登记处是系统研究高风险结节病表现形式的关键第一步。我们回顾了高风险结节病表现形式的诊断和治疗方法。恰当地识别这些疾病亚组将有助于将具有良好表型的患者纳入结节病登记处和临床试验，这是缩小对这种神秘疾病理解差距的必要步骤。
