• Carlos A Ibarra Moreno, SilvaHelga C AHCAMalignant Hyperthermia Unit, Department of Anesthesiology, Pain and Intensive Care, Federal University of São Paulo, São Paulo, Brazil., Nicol C Voermans, Heinz Jungbluth, Luuk R van den Bersselaar, John Rendu, Agnieszka Cieniewicz, Philip M Hopkins, and Sheila Riazi.
• Malignant Hyperthermia Investigation Unit, Department of Anesthesiology and Pain Management, University Health Network, Toronto, ON, Canada.
• Br J Anaesth. 2024 Aug 5.

AbstractMalignant 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.

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