Institute of Neurology, Catholic University of the Sacred Heart, Rome, Italy.
Institute of Neurology, Policlinic A. Gemelli Foundation, Rome, Italy.
Eur J Neurol. 2024 Dec;31(12):e16442. doi: 10.1111/ene.16442. Epub 2024 Oct 23.
Despite the wide use of dopamine receptor blocking agents (DRBAs) in Huntington disease (HD), neuroleptic malignant syndrome (NMS) is rarely described in this population. The aim of this study was to assess NMS prevalence in a large cohort of HD patients and explore the main associated risk factors.
In 2023, an HD patient was admitted to our neurology department due to NMS. Starting from the case description, we performed a narrative review of the literature of NMS cases in HD, reviewed data from the fifth dataset of the Enroll-HD (a longitudinal, observational, global study of families with HD) study (PDS5) selecting HD patients treated with DRBAs and/or tetrabenazine (TBZ) who presented at least one of the core symptoms of NMS (rigidity and hyperthermia), and collected data to investigate prevalence of NMS and identify risk factors.
In the Enroll-HD PDS5 dataset, we identified 5108 of 11,569 HD patients who were undergoing DRBA and/or TBZ treatment. Only one patient, a Caucasian man of 46 years, undergoing clozapine and valproate treatment, had a registered diagnosis of NMS.
NMS in HD patients is seldom described. This could be due to an underestimation of this condition. There are no available objective NMS diagnostic criteria at present, and the existence of atypical forms of NMS further complicates diagnosis. Advanced disease stage, rigid-akinetic phenotype, abrupt therapy changes, polytherapy, and dehydration are key risk factors, most of which are preventable through awareness and caution in managing medications in the HD population.
尽管多巴胺受体阻断剂（DRBAs）在亨廷顿病（HD）中广泛应用，但在该人群中很少描述神经阻滞剂恶性综合征（NMS）。本研究旨在评估大型 HD 患者队列中 NMS 的患病率，并探讨主要相关危险因素。
2023 年，一名 HD 患者因 NMS 被收入我院神经内科。从病例描述入手，我们对 HD 中 NMS 病例的文献进行了叙述性综述，回顾了 Enroll-HD（一项针对亨廷顿病家庭的纵向、观察性、全球性研究）第五数据集（PDS5）中接受 DRBAs 和/或四苯嗪（TBZ）治疗且至少出现 NMS 核心症状（僵硬和高热）之一的 HD 患者的数据，并收集数据以调查 NMS 的患病率并确定危险因素。
在 Enroll-HD PDS5 数据集中，我们在 11569 名 HD 患者中确定了 5108 名正在接受 DRBA 和/或 TBZ 治疗的患者。只有一名 46 岁的白人男性患者正在接受氯氮平和丙戊酸治疗，其诊断为 NMS。
HD 患者中的 NMS 很少被描述。这可能是由于对这种情况的低估。目前没有可用的客观 NMS 诊断标准，并且存在非典型形式的 NMS 进一步使诊断复杂化。晚期疾病阶段、僵硬运动不能表型、突然的治疗改变、多药治疗和脱水是关键的危险因素，其中大多数可以通过在 HD 人群中管理药物时提高认识和谨慎来预防。
