Myopathic manifestations across the adult lifespan of patients with malignant hyperthermia susceptibility: a narrative review

Detalhes bibliográficos
Autor(a) principal: Moreno, Carlos A Ibarra
Data de Publicação: 2024
Outros Autores: Silva, Helga Cristina Almeida da [UNIFESP], Voermans, Nicol C, Jungbluth, Heinz, Bersselaar, Luuk R. van den, Rendu, John, Cieniewicz , Agnieszka, Hopkins, Philip M, Riazi, Sheila
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UNIFESP
Texto Completo: https://www.sciencedirect.com/science/article/pii/S0007091224004197
https://hdl.handle.net/11600/71546
Resumo: 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.
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spelling Myopathic manifestations across the adult lifespan of patients with malignant hyperthermia susceptibility: a narrative reviewGenetic testingMalignant hyperthermia susceptibilityMuscle crampsMyopathyRhabdomyolysisRYR1Malignant 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.British Journal of Anaesthesiahttp://lattes.cnpq.br/0844918862241102Moreno, Carlos A IbarraSilva, Helga Cristina Almeida da [UNIFESP]Voermans, Nicol CJungbluth, HeinzBersselaar, Luuk R. van denRendu, JohnCieniewicz , AgnieszkaHopkins, Philip MRiazi, Sheila2024-08-07T15:03:55Z2024-08-07T15:03:55Z2024-08-05info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://www.sciencedirect.com/science/article/pii/S000709122400419710.1016/j.bja.2024.05.046https://hdl.handle.net/11600/7154610.1016/j.bja.2024.05.046engBritish Journal of Anaesthesiainfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UNIFESPinstname:Universidade Federal de São Paulo (UNIFESP)instacron:UNIFESP2024-08-12T09:02:16Zoai:repositorio.unifesp.br/:11600/71546Repositório InstitucionalPUBhttp://www.repositorio.unifesp.br/oai/requestbiblioteca.csp@unifesp.bropendoar:34652024-08-12T09:02:16Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP)false
dc.title.none.fl_str_mv Myopathic manifestations across the adult lifespan of patients with malignant hyperthermia susceptibility: a narrative review
title Myopathic manifestations across the adult lifespan of patients with malignant hyperthermia susceptibility: a narrative review
spellingShingle Myopathic manifestations across the adult lifespan of patients with malignant hyperthermia susceptibility: a narrative review
Moreno, Carlos A Ibarra
Genetic testing
Malignant hyperthermia susceptibility
Muscle cramps
Myopathy
Rhabdomyolysis
RYR1
title_short Myopathic manifestations across the adult lifespan of patients with malignant hyperthermia susceptibility: a narrative review
title_full Myopathic manifestations across the adult lifespan of patients with malignant hyperthermia susceptibility: a narrative review
title_fullStr Myopathic manifestations across the adult lifespan of patients with malignant hyperthermia susceptibility: a narrative review
title_full_unstemmed Myopathic manifestations across the adult lifespan of patients with malignant hyperthermia susceptibility: a narrative review
title_sort Myopathic manifestations across the adult lifespan of patients with malignant hyperthermia susceptibility: a narrative review
author Moreno, Carlos A Ibarra
author_facet Moreno, Carlos A Ibarra
Silva, Helga Cristina Almeida da [UNIFESP]
Voermans, Nicol C
Jungbluth, Heinz
Bersselaar, Luuk R. van den
Rendu, John
Cieniewicz , Agnieszka
Hopkins, Philip M
Riazi, Sheila
author_role author
author2 Silva, Helga Cristina Almeida da [UNIFESP]
Voermans, Nicol C
Jungbluth, Heinz
Bersselaar, Luuk R. van den
Rendu, John
Cieniewicz , Agnieszka
Hopkins, Philip M
Riazi, Sheila
author2_role author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv http://lattes.cnpq.br/0844918862241102
dc.contributor.author.fl_str_mv Moreno, Carlos A Ibarra
Silva, Helga Cristina Almeida da [UNIFESP]
Voermans, Nicol C
Jungbluth, Heinz
Bersselaar, Luuk R. van den
Rendu, John
Cieniewicz , Agnieszka
Hopkins, Philip M
Riazi, Sheila
dc.subject.por.fl_str_mv Genetic testing
Malignant hyperthermia susceptibility
Muscle cramps
Myopathy
Rhabdomyolysis
RYR1
topic Genetic testing
Malignant hyperthermia susceptibility
Muscle cramps
Myopathy
Rhabdomyolysis
RYR1
description 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.
publishDate 2024
dc.date.none.fl_str_mv 2024-08-07T15:03:55Z
2024-08-07T15:03:55Z
2024-08-05
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv https://www.sciencedirect.com/science/article/pii/S0007091224004197
10.1016/j.bja.2024.05.046
https://hdl.handle.net/11600/71546
10.1016/j.bja.2024.05.046
url https://www.sciencedirect.com/science/article/pii/S0007091224004197
https://hdl.handle.net/11600/71546
identifier_str_mv 10.1016/j.bja.2024.05.046
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv British Journal of Anaesthesia
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv British Journal of Anaesthesia
publisher.none.fl_str_mv British Journal of Anaesthesia
dc.source.none.fl_str_mv reponame:Repositório Institucional da UNIFESP
instname:Universidade Federal de São Paulo (UNIFESP)
instacron:UNIFESP
instname_str Universidade Federal de São Paulo (UNIFESP)
instacron_str UNIFESP
institution UNIFESP
reponame_str Repositório Institucional da UNIFESP
collection Repositório Institucional da UNIFESP
repository.name.fl_str_mv Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP)
repository.mail.fl_str_mv biblioteca.csp@unifesp.br
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