Myopathic manifestations across the adult lifespan of patients with malignant hyperthermia susceptibility: a narrative review
Autor(a) principal: | |
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Data de Publicação: | 2024 |
Outros Autores: | , , , , , , , |
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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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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1814268323930570752 |