Division of Heart and Lungs, Department of Pulmonology, University Medical Centre Utrecht, The Netherlands.
ILD Care Foundation Research Team, Ede, The Netherlands.
Semin Respir Crit Care Med. 2020 Oct;41(5):641-651. doi: 10.1055/s-0040-1710576. Epub 2020 Aug 10.
Neurosarcoidosis (NS) is an often severe, destructive manifestation with a likely under-reported prevalence of 5 to 15% of sarcoidosis cases, and in its active phase demands timely treatment intervention. Clinical signs and symptoms of NS are variable and wide-ranging, depending on anatomical involvement. Cranial nerve dysfunction, cerebrospinal parenchymal disease, aseptic meningitis, and leptomeningeal disease are the most commonly recognized manifestations. However, non-organ-specific potentially neurologically driven symptoms, such as fatigue, cognitive dysfunction, and small fiber neuropathy, appear frequently.Heterogeneous clinical presentations and absence of any single conclusive test or biomarker render NS, and sarcoidosis itself, a challenging definitive diagnosis. Clinical suspicion of NS warrants a thorough and neurologic evaluation hopefully resulting in supportive extraneural physical exam and/or tissue findings. Treatment targets the severity of the manifestation, with careful discernment of whether NS reflects active potentially reversible inflammatory granulomatous disease versus inactive postinflammatory damage whereby functional impairment is unlikely to be pharmacologically responsive. Non-organ-specific symptoms are poorly understood, challenging in deciphering reversibility and often identified too late to respond to conventional immunosuppressive/pharmacological treatment. Physical therapy, coping strategies, and stress reduction may benefit patients with all disease activity levels of NS.This publication provides an approach to screening, diagnosis, disease activity discernment, and pharmacological as well as nonpharmacological treatment interventions to reduce disability and protect health-related quality of life in NS.
神经结节病(NS)是一种常严重且具破坏性的疾病,其发病率可能被低估,占结节病病例的 5%至 15%,在活动期需要及时进行治疗干预。NS 的临床体征和症状多种多样且广泛,取决于解剖学受累部位。颅神经功能障碍、脑实质疾病、无菌性脑膜炎和软脑膜疾病是最常见的表现形式。然而,非器官特异性的潜在神经驱动症状,如疲劳、认知功能障碍和小纤维神经病,也经常出现。临床表现的异质性和缺乏任何单一明确的测试或生物标志物,使得 NS 和结节病本身成为一个具有挑战性的明确诊断。对 NS 的临床怀疑需要进行全面的神经评估,希望能得出支持性的神经外体格检查和/或组织发现。治疗针对疾病的严重程度,需要仔细辨别 NS 是否反映了潜在的、可能可逆的炎症性肉芽肿性疾病,还是反映了无活动性的炎症后损伤,后者的功能障碍不太可能对药物治疗有反应。非器官特异性症状了解甚少,难以辨别其可逆性,而且往往发现得太晚,无法对常规免疫抑制/药物治疗产生反应。物理治疗、应对策略和减轻压力可能使所有 NS 疾病活动水平的患者受益。本出版物提供了一种筛查、诊断、疾病活动识别以及药物和非药物治疗干预的方法,以减少残疾并保护 NS 患者的健康相关生活质量。