Penn State Health Milton S. Hershey Medical Center, Hershey, Pennsylvania.
Am Fam Physician. 2024 Jan;109(1):19-29.
Sarcoidosis is a multisystem granulomatous inflammatory disease of unknown etiology that can involve any organ. Ongoing dyspnea and dry cough in a young to middle-aged adult should increase the suspicion for sarcoidosis. Symptoms can present at any age and affect any organ system; however, pulmonary sarcoidosis is the most common. Extrapulmonary manifestations often involve cardiac, neurologic, ocular, and cutaneous systems. Patients with sarcoidosis can exhibit constitutional symptoms such as fever, unintentional weight loss, and fatigue. The early recognition and diagnosis of sarcoidosis are challenging because there is no diagnostic standard for testing, initial symptoms vary, and patients may be asymptomatic. Consensus guidelines recommend a holistic approach when diagnosing sarcoidosis that focuses on clinical presentation and radiographic findings, biopsy with evidence of noncaseating granulomas, involvement of more than one organ system, and elimination of other etiologies of granulomatous disease. Corticosteroids are the initial treatment for active disease, with refractory cases often requiring immunosuppressive or biologic therapies. Transplantation can be considered for advanced and end-stage disease depending on organ involvement.
结节病是一种病因不明的多系统肉芽肿性炎症性疾病,可累及任何器官。对于中青年患者,持续性呼吸困难和干咳应增加对结节病的怀疑。症状可发生在任何年龄,并影响任何器官系统;然而,肺部结节病最为常见。肺外表现常涉及心脏、神经、眼部和皮肤系统。结节病患者可出现全身症状,如发热、不明原因的体重减轻和疲劳。由于缺乏检测的诊断标准、初始症状各异以及患者可能无症状,因此结节病的早期识别和诊断具有挑战性。诊断结节病的共识指南建议采用综合方法,重点关注临床表现和影像学发现、活检有非干酪样肉芽肿证据、累及多个器官系统以及排除其他肉芽肿性疾病的病因。皮质类固醇是活动性疾病的初始治疗方法,对于难治性病例,通常需要免疫抑制或生物治疗。根据器官受累情况,可考虑对晚期和终末期疾病进行移植。