title: European Malignant Hyperthermia Group guidelines for investigation of malignant hyperthermia susceptibility.
abstract: It is 30 yr since the British Journal of Anaesthesia published the first consensus protocol for the laboratory diagnosis of malignant hyperthermia susceptibility from the European Malignant Hyperthermia Group. This has subsequently been used in more than 10 000 individuals worldwide to inform use of anaesthetic drugs in these patients with increased risk of developing malignant hyperthermia during general anaesthesia, representing an early and successful example of stratified medicine. In 2001, our group also published a guideline for the use of DNA-based screening of malignant hyperthermia susceptibility. We now present an updated and complete guideline for the diagnostic pathway for patients potentially at increased risk of developing malignant hyperthermia. We introduce the new guideline with a narrative commentary that describes its development, the changes to previously published protocols and guidelines, and new sections, including recommendations for patient referral criteria and clinical interpretation of laboratory findings.
authors.affiliation: Malignant Hyperthermia Unit, Leeds Institute of Biomedical and Clinical Sciences, St James's University Hospital, Leeds, UK p.m.hopkins@leeds.ac.uk.
authors.forename: P M
authors.initials: PM
authors.lastname: Hopkins
authors.affiliation: Department of Anaesthesiology and Intensive Care Medicine, University Hospital Leipzig, Leipzig, Germany Klinik für Anästhesie, Intensivmedizin, Schmerztherapie, Helios Klinik Schkeuditz, Schkeuditz, Germany.
authors.forename: H
authors.initials: H
authors.lastname: Rüffert
authors.affiliation: Department of Anaesthesiology, Canisius-Wilhelmina Ziekenhuis, Nijmegen, The Netherlands.
authors.forename: M M
authors.initials: MM
authors.lastname: Snoeck
authors.affiliation: Department of Anaesthesia and Research, University of Basel, Basel, Switzerland.
authors.forename: T
authors.initials: T
authors.lastname: Girard
authors.affiliation: Danish Malignant Hyperthermia Centre, Department of Anaesthesia, University Hospital Herlev, Copenhagen, Denmark.
authors.forename: K P E
authors.initials: KP
authors.lastname: Glahn
authors.affiliation: Malignant Hyperthermia Unit, Leeds Institute of Biomedical and Clinical Sciences, St James's University Hospital, Leeds, UK.
authors.forename: F R
authors.initials: FR
authors.lastname: Ellis
authors.affiliation: Department of Human Genetics, University of Würzburg, Würzburg, Germany.
authors.forename: C R
authors.initials: CR
authors.lastname: Müller
authors.affiliation: Department of Anaesthesia and Research, University of Basel, Basel, Switzerland.
authors.forename: A
authors.initials: A
authors.lastname: Urwyler
mesh_terms: D005060:Europe; D020022:Genetic Predisposition to Disease; D006801:Humans; D008305:Malignant Hyperthermia / Q000175:diagnosis* / Q000235:genetics*; D012017:Referral and Consultation
keywords: CACNA1S; RYR1; excitation–contraction coupling; malignant hyperthermia; malignant hyperthermia susceptibility, diagnosis; skeletal muscle