在 6.5 年期间,根据 MH 临床定义的细节和患者接触的麻醉药类型不同,急性麻醉相关性 MH 的发病率从 1/4000 到 1/250,000 不等。[15]Ording H. Incidence of malignant hyperthermia in Denmark. Anesth Analg. 1985;64:700-707.http://www.ncbi.nlm.nih.gov/pubmed/4014731?tool=bestpractice.com据估计,引起 MH 易感性的一种遗传基质的流行率至少是 1/3000。[16]Monnier N, Krivosic-Horber R, Payen JF, et al. Presence of two different genetic traits in malignant hyperthermia families: implications for genetics analysis, diagnosis, and incidence of malignant hyperthermia susceptibility. Anesthesiology. 2002;97:1067-1074.http://www.ncbi.nlm.nih.gov/pubmed/12411788?tool=bestpractice.com[17]Ibarra MCA, Wu S, Murayama K, et al. Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing. Anesthesiology. 2006;104:1146-1154.http://www.ncbi.nlm.nih.gov/pubmed/16732084?tool=bestpractice.com[18]Brandom BW, Bina S, Wong CA, et al. Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States. Anesth Analg. 2013;116:1078-1086.http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3633164/http://www.ncbi.nlm.nih.gov/pubmed/23558838?tool=bestpractice.com[19]Gonsalves SG, Ng D, Johnston JJ, et al; NISC Comparative Sequencing Program. Using exome data to identify malignant hyperthermia susceptibility mutations. Anesthesiology. 2013;119:1043-1053.http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4077354/http://www.ncbi.nlm.nih.gov/pubmed/24195946?tool=bestpractice.com这是部分基于对欧洲、北美和日本 MH 易感人群中已发现的兰尼碱受体基因 1 型 (RYR1) 变异的复合杂合子的观察。[20]Kraeva N, Riazi S, Loke J, et al. Ryanodine receptor type 1 gene mutations found in the Canadian malignant hyperthermia population. Can J Anaesth. 2011;58:504-513.http://link.springer.com/article/10.1007/s12630-011-9494-6/fulltext.htmlhttp://www.ncbi.nlm.nih.gov/pubmed/21455645?tool=bestpractice.com变异型 RYR1 已经在南美、南非、澳大利亚、新西兰、韩国和中国的已经发生过 MH 事件和死亡的家庭中发现。[21]Chan B, Chen SP, Wong WC, et al. RYR1-related central core myopathy in a Chinese adolescent boy. Hong Kong Med J. 2011;17:67-70.http://www.hkmj.org/article_pdfs/hkm1102p67.pdfhttp://www.ncbi.nlm.nih.gov/pubmed/21282829?tool=bestpractice.com[22]Gillies RL, Bjorksten AR, Du Sart D, et al. Analysis of the entire ryanodine receptor type 1 and alpha 1 subunit of the dihydropyridine receptor (CACNA1S) coding regions for variants associated with malignant hyperthermia in Australian families. Anaesth Intensive Care. 2015;43:157-166.http://www.ncbi.nlm.nih.gov/pubmed/25735680?tool=bestpractice.com但是,RYR1 突变大约只占 MH 病例的 50%,故只根据 RYR1 突变而获得的 MH 流行率可能被低估。[23]Sambuughin N, Holley H, Muldoon S, et al. Screening of the entire ryanodine receptor type 1 coding region for sequence variants associated with malignant hyperthermia susceptibility in the North American population. Anesthesiology. 2005;102:515-521.http://www.ncbi.nlm.nih.gov/pubmed/15731587?tool=bestpractice.com[24]Levano S, Vukcevic M, Singer M, et al. Increasing the number of diagnostic mutations in malignant hyperthermia. Human Mutat. 2009;30:590-598.http://www.ncbi.nlm.nih.gov/pubmed/19191329?tool=bestpractice.com但结果可能因特定人群和基因检测的细节而有所差异。[19]Gonsalves SG, Ng D, Johnston JJ, et al; NISC Comparative Sequencing Program. Using exome data to identify malignant hyperthermia susceptibility mutations. Anesthesiology. 2013;119:1043-1053.http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4077354/http://www.ncbi.nlm.nih.gov/pubmed/24195946?tool=bestpractice.com据报道,MH 的发生在男性中较女性中更为常见。[4]Riazi S, Larach MG, Hu C, et al. Malignant hyperthermia in Canada: characteristics of index anesthetics in 129 malignant hyperthermia susceptible probands. Anesth Analg. 2014;118:381-387.http://www.ncbi.nlm.nih.gov/pubmed/23842196?tool=bestpractice.com[5]Larach MG, Gronert GA, Allen GC, et al. Clinical presentation, treatment, and complications of malignant hyperthermia in North America from 1987 to 2006. Anesth Analg. 2010;110:498-507.http://journals.lww.com/anesthesia-analgesia/pages/articleviewer.aspx?year=2010&issue=02000&article=00039&type=Fulltexthttp://www.ncbi.nlm.nih.gov/pubmed/20081135?tool=bestpractice.com[25]Sumitani M, Uchida K, Yasunaga H, et al. Prevalence of malignant hyperthermia and relationship with anesthetics in Japan: data from the diagnosis procedure combination database. Anesthesiology. 2011;114:84-90.http://www.ncbi.nlm.nih.gov/pubmed/21169796?tool=bestpractice.com[26]Visoiu M, Young MC, Wieland K, et al. Anesthetic drugs and onset of malignant hyperthermia. Anesth Analg. 2014;118:388-396.http://www.ncbi.nlm.nih.gov/pubmed/24445637?tool=bestpractice.comThe North American Malignant Hyperthermia Registry