晚发硬人综合征:诊断和管理方面的挑战
Marinos C Dalakas1,2, Jessica Yi3
1Neuromuscular Division, Department of Neurology, Thomas Jefferson University, 901 Walnut Street, Philadelphia, PA 19107, USA.
Therapeutic advances in neurological disorders
|December 28, 2023
概括
晚发硬人综合征 (LOSPS) 经常被误诊,导致老年患者的治疗延迟和快速残疾. 提高意识对于早期诊断和 LOSPS 的干预至关重要.
科学领域:
- 神经学 神经学
- 自免疫性疾病 自免疫性疾病
- 老年病的医生 老年病的医生
背景情况:
- 刚性人综合征 (SPS) 是一种罕见的自身免疫性疾病,其特征是神经元过度兴奋,通常在20岁以上的成年人中出现肌肉硬和.
- 晚发性SPS (LOSPS) 缺乏与早期发病形式相比其独特的症状谱和结果的具体信息.
研究的目的:
- 调查晚发硬人综合征 (LOSPS) 患者的临床表现,诊断延迟和治疗反应.
- 强调需要提高疾病意识,以促进早期诊断和 LOSPS 的干预.
主要方法:
- 对GAD-65抗体阳性SPS患者进行了回顾性图表审查,患者在60岁后出现症状.
- 该研究的重点是临床表现,错误诊断,治疗疗效,耐受性和疾病进展.
主要成果:
- 确定了9名患有LOSPS的患者,症状发病时间均为61岁.
- 观察到诊断延迟的中位数为3年,患者经常被错误诊断为患有诸如 lumbosacral radiculopathy或帕金森病等疾病.
- 治疗反应有限,免疫疗法 (IVIg,rituximab) 的部分或不完全反应和对抗药物的耐受性差;两名患者死亡.
结论:
- LOSPS在老年人中经常被误诊,因为它模仿了其他常见的老年病症.
- 延迟诊断和治疗,加上潜在的免疫衰变和并发症,导致LOSPS患者的疾病进展迅速和严重残疾.
- 在老年人群中提高对LOSPS的认识对于及时诊断和启动免疫治疗以预防严重,不可逆转的残疾至关重要.
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