Rheumatology Department, Virgen Macarena University Hospital, Av Dr. Fedriani 3, 41009, Seville, Spain.
Internal Medicine Department, Virgen Macarena University Hospital, Av Dr. Fedriani 3, 41009, Seville, Spain.
J Med Case Rep. 2023 Jun 29;17(1):303. doi: 10.1186/s13256-023-03996-w.
Sarcoidosis is a multisystemic granulomatous disease of unknown origin. It is characterized by abnormal activation of lymphocytes and macrophages with the formation of granulomas. Most cases have asymptomatic pulmonary involvement. In case of symptoms, they have an excellent response to glucocorticoid therapy. We present a case of sarcoidosis with multi-organ involvement, refractory to multiple treatments including biological. Partial remission was achieved in it.
We report an interesting case of a 38-years-old Spanish woman treated by Heerfordt's syndrome (uveitis, parotiditis, fever and facial palsy) plus pulmonary hiliar adenopathy. A sarcoidosis diagnosis was confirmed by lung biopsy. She was initially treated with an 8 weeks course of medium dose oral glucocorticoids and tapered over 8 weeks with improvement. After the suspension of glucocorticoids a relapse occurs with severe ocular involvement and suspicion of neurological involvement. The patient received multiple lines of treatment with poor response. Finally, after the combination of cyclophosphamide with infliximab, the uveitis resolved, improving the neurological symptoms.
Sarcoidosis is a benign disease in most cases. In a small percentage of cases behaves aggressively, requiring early diagnosis and immunosuppressive treatment to avoid sequelae. An adequate immunosuppressive therapy based on Anti TNF drugs should be started to minimize damage and improve the quality of life.The choice of treatment depends on the type and severity of the disease.
结节病是一种病因不明的多系统肉芽肿性疾病。其特征为淋巴细胞和巨噬细胞异常激活，形成肉芽肿。多数病例肺部受累无症状。若有症状，糖皮质激素治疗效果极好。我们报告一例多器官受累的结节病，对包括生物制剂在内的多种治疗均有抵抗，部分缓解。
我们报告一例有趣的病例，西班牙 38 岁女性，患有 Heerfordt 综合征（葡萄膜炎、腮腺炎、发热和面瘫）合并肺门淋巴结肿大。肺部活检证实为结节病。她最初接受了 8 周中等剂量口服糖皮质激素治疗，然后在 8 周内逐渐减量，病情改善。糖皮质激素停药后，病情复发，眼部受累严重，并怀疑有神经系统受累。患者接受了多种治疗方案，但反应不佳。最后，环磷酰胺联合英夫利昔单抗治疗后，葡萄膜炎缓解，神经系统症状改善。
结节病在大多数情况下是良性疾病。但在一小部分病例中表现为侵袭性，需要早期诊断和免疫抑制治疗，以避免后遗症。应根据抗 TNF 药物进行适当的免疫抑制治疗，以最小化损伤并提高生活质量。治疗的选择取决于疾病的类型和严重程度。
