Day Julia, Hamann Philip D H
North Bristol NHS Foundation Trust, Bristol BS10 5NB, UK.
Musculoskeletal Research Unit, University of Bristol, Southmead Hospital, Learning and Research Building, Southmead Road, Bristol BS10 5NB, UK.
Diagnostics (Basel). 2024 Dec 17;14(24):2842. doi: 10.3390/diagnostics14242842.
Sarcoidosis is a multisystem granulomatous inflammatory disorder, of unknown aetiology, which causes a wide spectrum of clinical phenotypes. It can present at any age, most commonly between 20 and 60 years, with a roughly equal sex distribution. Diagnosis is often delayed due to multiple diagnostic mimics, particularly joint disease. Common presenting features include pulmonary disease, with bilateral hilar lymphadenopathy and pulmonary infiltrates, cutaneous lesions, and ocular disease. Musculoskeletal manifestations are reported in 10-40% of patients with sarcoidosis and include bone lesions, acute arthritis, chronic arthritis, axial disease, dactylitis, and sarcoid myopathy, which are explored in detail in this review article. Diagnosis is confirmed through histological evidence of non-caseating granuloma on tissue biopsy. Newer imaging modalities, including FDG PET/CT, can help identify the extent of musculoskeletal involvement, and biomarkers can provide weight to a diagnosis, but there is no single biomarker with prognostic value for disease monitoring. The mainstay of treatment remains corticosteroids, followed by disease-modifying antirheumatic drugs such as methotrexate and antimalarials. More recently, biologic treatments have been used successfully in the treatment of sarcoidosis with rheumatic involvement.
结节病是一种病因不明的多系统肉芽肿性炎症性疾病,可导致多种临床表型。它可在任何年龄出现,最常见于20至60岁之间,男女发病率大致相等。由于存在多种诊断相似情况,尤其是关节疾病,诊断往往会延迟。常见的临床表现包括肺部疾病,伴有双侧肺门淋巴结肿大和肺部浸润、皮肤病变以及眼部疾病。10%至40%的结节病患者有肌肉骨骼表现,包括骨病变、急性关节炎、慢性关节炎、轴性疾病、指(趾)炎和结节病性肌病,本文将对这些进行详细探讨。通过组织活检发现非干酪样肉芽肿的组织学证据来确诊。包括FDG PET/CT在内的新型成像方式有助于确定肌肉骨骼受累的程度,生物标志物可为诊断提供支持,但尚无单一生物标志物对疾病监测具有预后价值。治疗的主要手段仍然是皮质类固醇,其次是改善病情的抗风湿药物,如甲氨蝶呤和抗疟药。最近,生物治疗已成功用于治疗伴有风湿性受累的结节病。