Gomes A O, Andrade P V, Santos J M, Souza L S, Oliveira A S B, Vainzof M, Silva H C A
Department of Neurology Federal University of São Paulo São Paulo Brazil.
Department of Genetics and Evolutionary Biology Institute of Biosciences, University of São Paulo São Paulo Brazil.
Anaesth Rep. 2025 Jul 9;13(2):e70021. doi: 10.1002/anr3.70021. eCollection 2025 Jul-Dec.
Malignant hyperthermia is a potentially fatal autosomal dominant hypermetabolic pharmacogenetic syndrome resulting from altered intracellular calcium dynamics in skeletal muscle, triggered by halogenated anaesthetics and suxamethonium. Current evidence suggests a degree of association between malignant hyperthermia and joint dislocations. We evaluated 162 patients with a personal or family history of malignant hyperthermia utilising a standardised protocol. We found a significantly higher incidence of joint dislocations in patients with malignant hyperthermia compared to non-susceptible patients (11% versus 0%, p = 0.002). This study contributes to understanding the long-term clinical manifestations of malignant hyperthermia and consequently may help develop clinical management strategies which incorporate the risk of joint dislocations, such as care in positioning during anaesthesia, and therapeutic interventions to improve quality of life.
恶性高热是一种潜在致命的常染色体显性遗传的高代谢药物遗传学综合征,由骨骼肌细胞内钙动力学改变引起,由卤化麻醉剂和琥珀胆碱触发。目前的证据表明恶性高热与关节脱位之间存在一定程度的关联。我们使用标准化方案评估了162例有恶性高热个人或家族史的患者。我们发现,与非易感患者相比,恶性高热患者关节脱位的发生率显著更高(11% 对0%,p = 0.002)。这项研究有助于了解恶性高热的长期临床表现,因此可能有助于制定临床管理策略,其中纳入关节脱位的风险,如麻醉期间的体位护理以及改善生活质量的治疗干预措施。