恶性高热易感性（MHS）是指个体有因卤化麻醉剂或去极化神经肌肉阻断剂琥珀胆碱引发代谢亢进反应的风险。在过去的几十年里，除了手术室之外，影响日常生活的肌病表现越来越被认为是 MHS 患者中的普遍现象。应欧洲恶性高热小组的要求，我们回顾了文献并收集了专家的意见，将 MHS 相关肌病定义为在 MHS 患者成年寿命中表达的一种与麻醉暴露无关的独特表型；这有助于提高人们对非麻醉表现、潜在疗法以及 MHS 相关肌病治疗的认识。我们重点关注临床表现、生化和组织病理学结果以及对患者健康的影响。 MHS 相关肌病的症状包括肌肉痉挛、僵硬、肌痛、横纹肌溶解和虚弱，发病年龄范围广泛，主要在成年期发病。组织病理学分析可以揭示提示 RYR1 参与的非特异性异常，而代谢谱则反映 MHS 肌肉中能量代谢的改变。肌病表现可显着影响患者的生活质量并导致功能限制和社会经济负担。虽然目前可用的疗法可以缓解症状，但仍需要进一步研究针对潜在病理生理学的靶向治疗。在确定 MHS 诊断后尽早进行咨询，然后进行涉及各个医学专业的多学科管理，对于优化患者护理至关重要。Crown 版权所有 © 2024。由 Elsevier Ltd 出版。保留所有权利。

Malignant hyperthermia susceptibility (MHS) designates individuals at risk of developing a hypermetabolic reaction triggered by halogenated anaesthetics or the depolarising neuromuscular blocking agent suxamethonium. Over the past few decades, beyond the operating theatre, myopathic manifestations impacting daily life are increasingly recognised as a prevalent phenomenon in MHS patients. At the request of the European Malignant Hyperthermia Group, we reviewed the literature and gathered the opinion of experts to define MHS-related myopathy as a distinct phenotype expressed across the adult lifespan of MHS patients unrelated to anaesthetic exposure; this serves to raise awareness about non-anaesthetic manifestations, potential therapies, and management of MHS-related myopathy. We focused on the clinical presentation, biochemical and histopathological findings, and the impact on patient well-being. The spectrum of symptoms of MHS-related myopathy encompasses muscle cramps, stiffness, myalgias, rhabdomyolysis, and weakness, with a wide age range of onset mainly during adulthood. Histopathological analysis can reveal nonspecific abnormalities suggestive of RYR1 involvement, while metabolic profiling reflects altered energy metabolism in MHS muscle. Myopathic manifestations can significantly impact patient quality of life and lead to functional limitations and socio-economic burden. While currently available therapies can provide symptomatic relief, there is a need for further research into targeted treatments addressing the underlying pathophysiology. Counselling early after establishing the MHS diagnosis, followed by multidisciplinary management involving various medical specialties, is crucial to optimise patient care.Crown Copyright © 2024. Published by Elsevier Ltd. All rights reserved.