Tarisawa Monami, Matsushima Masaaki, Kudo Akihiko, Nomura Taichi, Uwatoko Hisashi, Shirai Shinichi, Takahashi-Iwata Ikuko, Sakushima Ken, Yaguchi Hiroaki, Yokota Isao, Nishimoto Naoki, Sawada Jun, Matsuoka Takeshi, Uesugi Haruo, Minami Naoya, Sako Kazuya, Takei Asako, Hisahara Shin, Kanatani Yasuhiro, Tamakoshi Akiko, Sato Norihiro, Yabe Ichiro
Department of Neurology, Faculty of Medicine, Graduate School of Medicine, Hokkaido University, Sapporo, Japan.
Department of Neurology, Obihiro Kosei General Hospital, Obihiro, Japan.
Cerebellum. 2025 Sep 6;24(5):152. doi: 10.1007/s12311-025-01905-z.
Multiple system atrophy (MSA) is a progressive, adult-onset neurodegenerative disorder involving autonomic failure, cerebellar ataxia, and parkinsonism. Patients often require invasive interventions, such as gastrostomy or tracheostomy, and sudden death is common. This study aimed to elucidate patterns of invasive treatment and identify risk factors for tracheostomy or sudden death within 5 years of onset. In total, 214 patients diagnosed with MSA between November 2014 and October 2024 across 66 institutions in Hokkaido were enrolled in the Hokkaido Rare Disease Consortium for MSA (HoRC-MSA). Patients were grouped by clinical course and interventions. We analyzed use of invasive procedures, including enteral nutrition via gastrostomy, enterostomy, esophagostomy, nasogastric tube insertion, central venous nutrition, tracheostomy, and ventilator support. Multivariable analyses were performed to compare patients with and without early critical events, defined as tracheostomy or sudden death within 5 years of disease onset. Invasive procedures were performed in 63.1% of patients. Patients receiving enteral nutrition and tracheostomy had prolonged survival. Early events correlated with older onset age (mean, 65.9 years), orthostatic hypotension, stridor, and an elevated apnea-hypopnea index (median, 32.45). Patients with preserved activities of daily living (ADL) in the Unified MSA Rating Scale part Ⅳ also had an increased risk of early critical events. Autonomic dysfunction, sleep-disordered breathing, and vocal cord impairment predict key risk factors for early mortality in patients with MSA. Monitoring is necessary, regardless of preserved ADL. The impact of invasive interventions on quality of life should be further explored.
多系统萎缩（MSA）是一种进行性、成人起病的神经退行性疾病，涉及自主神经功能衰竭、小脑共济失调和帕金森综合征。患者常需要侵入性干预措施，如胃造口术或气管切开术，猝死很常见。本研究旨在阐明侵入性治疗模式，并确定发病5年内气管切开术或猝死的危险因素。2014年11月至2024年10月期间，北海道66家机构共214例诊断为MSA的患者被纳入北海道MSA罕见病联盟（HoRC-MSA）。患者按临床病程和干预措施分组。我们分析了侵入性操作的使用情况，包括通过胃造口术进行肠内营养、肠造口术、食管造口术、鼻胃管插入、中心静脉营养、气管切开术和呼吸机支持。进行多变量分析以比较有和没有早期关键事件的患者，早期关键事件定义为疾病发病5年内的气管切开术或猝死。63.1%的患者接受了侵入性操作。接受肠内营养和气管切开术的患者生存期延长。早期事件与发病年龄较大（平均65.9岁）、体位性低血压、喘鸣和呼吸暂停低通气指数升高（中位数32.45）相关。统一MSA评定量表第四部分日常生活活动（ADL）功能保留的患者发生早期关键事件的风险也增加。自主神经功能障碍、睡眠呼吸障碍和声带损伤是MSA患者早期死亡的关键危险因素。无论ADL功能是否保留，都有必要进行监测。应进一步探讨侵入性干预对生活质量的影响。
