Department of Respiratory Medicine and Allergy, Theme Inflammation and Ageing, Karolinska University Hospital, Stockholm, Sweden.
Unit of Epidemiology, Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden.
J Intern Med. 2023 Jun;293(6):668-680. doi: 10.1111/joim.13629. Epub 2023 Mar 14.
Sarcoidosis is characterized by noncaseating granulomas which form in almost any part of the body, primarily in the lungs and/or thoracic lymph nodes. Environmental exposures in genetically susceptible individuals are believed to cause sarcoidosis. There is variation in incidence and prevalence by region and race. Males and females are almost equally affected, although disease peaks at a later age in females than in males. The heterogeneity of presentation and disease course can make diagnosis and treatment challenging. Diagnosis is suggestive in a patient if one or more of the following is present: radiologic signs of sarcoidosis, evidence of systemic involvement, histologically confirmed noncaseating granulomas, sarcoidosis signs in bronchoalveolar lavage fluid (BALF), and low probability or exclusion of other causes of granulomatous inflammation. No sensitive or specific biomarkers for diagnosis and prognosis exist, but there are several that can be used to support clinical decisions, such as serum angiotensin-converting enzyme levels, human leukocyte antigen types, and CD4 Vα2.3+ T cells in BALF. Corticosteroids remain the mainstay of treatment for symptomatic patients with severely affected or declining organ function. Sarcoidosis is associated with a range of adverse long-term outcomes and complications, and with great variation in prognosis between populations. New data and technologies have moved sarcoidosis research forward, increasing our understanding of the disease. However, there is still much left to be discovered. The pervading challenge is how to account for patient variability. Future studies should focus on how to optimize current tools and develop new approaches so that treatment and follow-up can be targeted to individuals with more precision.
结节病的特征是非干酪样肉芽肿，可在体内几乎任何部位形成，主要在肺部和/或胸内淋巴结。遗传易感个体的环境暴露被认为会导致结节病。结节病的发病率和患病率因地区和种族而异。男性和女性受影响的比例几乎相同，但女性的发病高峰年龄晚于男性。临床表现和疾病过程的异质性使得诊断和治疗具有挑战性。如果以下任何一项存在，即可提示诊断为结节病：结节病的放射学征象、全身受累的证据、组织学证实的非干酪样肉芽肿、支气管肺泡灌洗液（BALF）中的结节病征象以及其他肉芽肿性炎症的低可能性或排除。目前没有用于诊断和预后的敏感或特异性生物标志物，但有几种生物标志物可用于支持临床决策，如血清血管紧张素转换酶水平、人类白细胞抗原类型和 BALF 中的 CD4 Vα2.3+T 细胞。对于有症状且器官功能严重受损或下降的患者，皮质类固醇仍然是治疗的主要方法。结节病与一系列不良的长期预后和并发症相关，且不同人群的预后差异很大。新的数据和技术推动了结节病研究的进展，增加了我们对该疾病的认识。然而，仍有许多问题有待发现。普遍存在的挑战是如何解释患者的变异性。未来的研究应侧重于如何优化现有工具和开发新方法，以便更精确地针对个体进行治疗和随访。
