Department of Rheumatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, China; The Integrated Traditional Chinese and Western Medicine Department, The First Affiliated Hospital of Chongqing Medical University, Chongqing 400016, China.
Department of Rheumatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, China.
Semin Arthritis Rheum. 2020 Dec;50(6):1500-1506. doi: 10.1016/j.semarthrit.2019.12.003. Epub 2020 Feb 3.
Systemic autoinflammatory diseases (SAIDs) are a group of disorders characterized by a dysregulation of innate immune system leading to multi-systemic inflammation. We aim to assess the neurological manifestations of Chinese adult patients with SAIDs.
Eighty adult patients (≥16 years) were diagnosed as SAIDs from April 2015 to June 2019, at the center of adult autoinflammatory diseases, Department of Rheumatology, Peking Union Medical College Hospital. Clinical and genetic features of these patients were collected. All patients underwent neurologic, ophthalmologic and otolaryngologic evaluation.
Totally 31 out of 80 (38.8%) patients had neurological manifestations, including 14 familial Mediterranean fever (45.2%), 6 NLRP3-associated autoinflammatory disease (19.4%), 5 tumor necrosis factor receptor-associated periodic fever syndrome (16.1%), 5 NLRP12-associated autoinflammatory disease (16.1%), and 1 Yao syndrome (3.2%). Twenty patients (64.5%) were adult-onset. The median time of diagnosis delay was 11.7 years (0.5-50 years). The common neurological damage included headache (28 patients, 90.3%), sensorineural hearing loss (6, 19.4%), dizziness (4, 12.9%), cerebral infarction/hemorrhage (4, 12.9%), chronic aseptic meningitis (3, 9.7%), intracranial hypertension (3, 9.7%), papilledema (3, 9.7%), optic neuritis (2, 6.5%), and hydrocephalus (1, 3.2%). Severe neurological damage was observed in 8 patients (25.8%), including brain atrophy, hydrocephalus, complete hearing loss, chronic aseptic meningitis and optic neuritis.
Neurological damage was diverse in SAIDs patients. Neurological symptoms should be fully realized by physicians, in not only pediatric but also adult patients with SAIDs. CSF analysis and brain images should be performed promptly. Early diagnosis and appropriate treatment are essential to avoid irreversible neurological complications.
系统性自身炎症性疾病（SAIDs）是一组以固有免疫系统失调导致多系统炎症为特征的疾病。本研究旨在评估中国成年 SAIDs 患者的神经系统表现。
2015 年 4 月至 2019 年 6 月，在我院成人自身炎症性疾病中心风湿免疫科，我们诊断了 80 例成年 SAIDs 患者（年龄≥16 岁）。收集这些患者的临床和遗传特征。所有患者均接受神经科、眼科和耳鼻喉科评估。
80 例患者中，31 例（38.8%）存在神经系统表现，包括 14 例家族性地中海热（45.2%）、6 例 NLRP3 相关自身炎症性疾病（19.4%）、5 例肿瘤坏死因子受体相关周期性发热综合征（16.1%）、5 例 NLRP12 相关自身炎症性疾病（16.1%）和 1 例 Yao 综合征（3.2%）。20 例（64.5%）为成年发病。中位诊断延迟时间为 11.7 年（0.5-50 年）。常见的神经系统损害包括头痛（28 例，90.3%）、感觉神经性听力损失（6 例，19.4%）、头晕（4 例，12.9%）、脑梗死/出血（4 例，12.9%）、慢性无菌性脑膜炎（3 例，9.7%）、颅内压增高（3 例，9.7%）、视乳头水肿（3 例，9.7%）、视神经炎（2 例，6.5%）和脑积水（1 例，3.2%）。8 例（25.8%）患者存在严重的神经系统损害，包括脑萎缩、脑积水、完全性听力损失、慢性无菌性脑膜炎和视神经炎。
SAIDs 患者的神经损伤表现多样。医生不仅应在儿科患者中，而且应在成年 SAIDs 患者中充分认识到神经系统症状。应及时进行 CSF 分析和脑影像检查。早期诊断和适当治疗对于避免不可逆的神经系统并发症至关重要。
