Genetic Testing for BCHE Variants Identifies Patients at Risk of Prolonged Neuromuscular Blockade in Response to Succinylcholine

References

• World Health Organization. Model List of Essential Medicines, 21st List, 2019. Geneva: World Health Organization; 2019 Licence: CC BY-NC-SA 3.0 IGO Available from: https://apps.who.int/iris/bitstream/handle/10665/325771/WHO-MVP-EMP-IAU-2019.06-eng.pdf?ua=1. Accessed 17, 2020.
   Google Scholar
• April MD, Arana A, Pallin DJ, et al. Emergency department intubation success with succinylcholine versus rocuronium: a National Emergency Airway Registry Study. Ann Emerg Med. 2018;72(6):645–653. doi:10.1016/j.annemergmed.2018.03.04229747958
   PubMed Web of Science ®Google Scholar
• Bauld HW, Gibson PF, Jebson PJ, Brown SS. Aetiology of prolonged apnoea after suxamethonium. Br J Anaesth. 1974;46(4):273–281. doi:10.1093/bja/46.4.2734451601
   PubMed Web of Science ®Google Scholar
• Gonsalves SG, Dirksen RT, Sangkuhl K, et al. Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for the use of potent volatile anesthetic agents and succinylcholine in the context of RYR1 or CACNA1S genotypes. Clin Pharmacol Ther. 2019;105(6):1338–1344. doi:10.1002/cpt.131930499100
   PubMed Web of Science ®Google Scholar
• Avidan MS, Stevens TW. The diving bell and the butterfly. Br J Anaesth. 2015;115(Suppl 1):i8–i10. doi:10.1093/bja/aev14326174306
   PubMed Web of Science ®Google Scholar
• Thomsen JL, Nielsen CV, Eskildsen KZ, Demant MN, Gatke MR. Awareness during emergence from anaesthesia: significance of neuromuscular monitoring in patients with butyrylcholinesterase deficiency. Br J Anaesth. 2015;115(Suppl 1):i78–i88. doi:10.1093/bja/aev09626174305
   PubMed Web of Science ®Google Scholar
• Puura AIE, Rorarius MGF, Manninen P, Hoppu S, Baer GA. The costs of intense neuromuscular block for anesthesia during endolaryngeal procedures due to waiting time. Anesth Analg. 1999;88(6):1335–1339. doi:10.1213/00000539-199906000-0002610357341
   PubMed Web of Science ®Google Scholar
• Lockridge O. Review of human butyrylcholinesterase structure, function, genetic variants, history of use in the clinic, and potential therapeutic uses. Pharmacol Ther. 2015;148:34–46. doi:10.1016/j.pharmthera.2014.11.01125448037
   PubMed Web of Science ®Google Scholar
• Soliday FK, Conley YP, Henker R. Pseudocholinesterase deficiency: a comprehensive review of genetic, acquired, and drug influences. AANA J. 2010;78(4):313–320.20879632
   PubMedGoogle Scholar
• Anectine^® (Succinylcholine Chloride Injection, USP) [prescribing information]. Princeton, NJ: Sandoz Inc; 2018.
   Google Scholar
• Parnas ML, Procter M, Schwarz MA, Mao R, Grenache DG. Concordance of butyrylcholinesterase phenotype with genotype: implications for biochemical reporting. Am J Clin Pathol. 2011;135(2):271–276. doi:10.1309/AJCPPI5KLINEKH7A21228368
   PubMed Web of Science ®Google Scholar
• Jensen FS, Skovgaard LT, Viby-Mogensen J. Identification of human plasma cholinesterase variants in 6688 individuals using biochemical analysis. Acta Anaesthesiol Scand. 1995;39(2):157–162. doi:10.1111/j.1399-6576.1995.tb04035.x7793180
   PubMed Web of Science ®Google Scholar
• Yen T, Nightingale BN, Burns JC, Sullivan DR, Stewart PM. Butyrylcholinesterase (BCHE) genotyping for post-succinylcholine apnea in an Australian population. Clin Chem. 2003;49(8):1297–1308. doi:10.1373/49.8.129712881446
   PubMed Web of Science ®Google Scholar
• Bartels CF, Jensen FS, Lockridge O, et al. DNA mutation associated with the human butyrylcholinesterase K-variant and its linkage to the atypical variant mutation and other polymorphic sites. Am J Hum Genet. 1992;50(5):1086–1103.1570838
   PubMed Web of Science ®Google Scholar
• Alvarellos ML, McDonagh EM, Patel S, McLeod HL, Altman RB, Klein TE. PharmGKB summary: succinylcholine pathway, pharmacokinetics/pharmacodynamics. Pharmacogenet Genomics. 2015;25(12):622–630. doi:10.1097/FPC.000000000000017026398623
   PubMed Web of Science ®Google Scholar
• Primo-Parmo SL, Bartels CF, Wiersema B, van der Spek AF, Innis JW, La Du BN. Characterization of 12 silent alleles of the human butyrylcholinesterase (BCHE) gene. Am J Hum Genet. 1996;58(1):52–64.8554068
   PubMed Web of Science ®Google Scholar
• Altamirano CV, Bartels CF, Lockridge O. The butyrylcholinesterase K-variant shows similar cellular protein turnover and quaternary interaction to the wild-type enzyme. J Neurochem. 2000;74(2):869–877. doi:10.1046/j.1471-4159.2000.740869.x10646540
   PubMed Web of Science ®Google Scholar
• Jasiecki J, Zuk M, Krawczynska N, et al. Haplotypes of butyrylcholinesterase K-variant and their influence on the enzyme activity. Chem Biol Interact. 2019;307:154–157. doi:10.1016/j.cbi.2019.05.00731071335
   PubMed Web of Science ®Google Scholar
• Hicks JK, Dunnenberger HM, Gumpper KF, Haidar CE, Hoffman JM. Integrating pharmacogenomics into electronic health records with clinical decision support. Am J Health Syst Pharm. 2016;73(23):1967–1976. doi:10.2146/ajhp16003027864204
   PubMed Web of Science ®Google Scholar
• Bocchini CA. Butyrylcholinesterase deficiency; BCHED. OMIM (Online Mendelian Inheritance in Man) Web site. 4 12, 2018 [Updated May 4, 2018] Available from: https://www.omim.org/entry/617936. Accessed 17, 2020.
   Google Scholar
• Del Tredici AL, Malhotra A, Dedek M, et al. Frequency of CYP2D6 alleles including structural variants in the United States. Front Pharmacol. 2018;9:305. doi:10.3389/fphar.2018.0030529674966
   PubMed Web of Science ®Google Scholar
• Jasiecki J, Jonca J, Zuk M, et al. Activity and polymorphisms of butyrylcholinesterase in a Polish population. Chem Biol Interact. 2016;259(Pt B):70–77. doi:10.1016/j.cbi.2016.04.03027109752
   PubMed Web of Science ®Google Scholar
• Bretlau C, Sorensen MK, Vedersoe AL, Rasmussen LS, Gatke MR. Response to succinylcholine in patients carrying the K-variant of the butyrylcholinesterase gene. Anesth Analg. 2013;116(3):596–601. doi:10.1213/ANE.0b013e318280a3f323400986
   PubMed Web of Science ®Google Scholar
• Souza RL, Castro RM, Pereira L, Freund AA, Culpi L, Chautard-Freire-Maia EA. Frequencies of the butyrylcholinesterase K mutation in Brazilian populations of European and African origin. Hum Biol. 1998;70(5):965–970.9780523
   PubMed Web of Science ®Google Scholar
• Mikami LR, Wieseler S, Souza RL, et al. Five new naturally occurring mutations of the BCHE gene and frequencies of 12 butyrylcholinesterase alleles in a Brazilian population. Pharmacogenet Genomics. 2008;18(3):213–218. doi:10.1097/FPC.0b013e3282f5107e18300943
   PubMed Web of Science ®Google Scholar
• Mollerup HM, Gatke MR. Butyrylcholinesterase gene mutations in patients with prolonged apnea after succinylcholine for electroconvulsive therapy. Acta Anaesthesiol Scand. 2011;55(1):82–86. doi:10.1111/j.1399-6576.2010.02316.x21029050
   PubMed Web of Science ®Google Scholar
• Keating GM. Sugammadex: a review of neuromuscular blockade reversal. Drugs. 2016;76(10):1041–1052. doi:10.1007/s40265-016-0604-127324403
   PubMed Web of Science ®Google Scholar
• Sauer M, Piel I, Haubner C, et al. Rocuronium is more hepatotoxic than succinylcholine in vitro. Eur J Anaesthesiol. 2017;34(9):623–627. doi:10.1097/EJA.000000000000066628763317
   PubMed Web of Science ®Google Scholar
• Kosinova M, Stourac P, Adamus M, et al. Rocuronium versus suxamethonium for rapid sequence induction of general anaesthesia for caesarean section: influence on neonatal outcomes. Int J Obstet Anesth. 2017;32:4–10. doi:10.1016/j.ijoa.2017.05.00128606652
   PubMed Web of Science ®Google Scholar
• Fernandes HDS, Ximenes JLS, Nunes DI, Ashmawi HA, Vieira JE. Failure of reversion of neuromuscular block with sugammadex in patient with myasthenia gravis: case report and brief review of literature. BMC Anesthesiol. 2019;19(1):160. doi:10.1186/s12871-019-0829-031421671
   PubMed Web of Science ®Google Scholar
• Elhassan A, Elhassan I, Elhassan A, et al. Perioperative surgical home models and enhanced recovery after surgery. J Anaesthesiol Clin Pharmacol. 2019;35(Suppl 1):S46–S50.31142959
   PubMed Web of Science ®Google Scholar
• van der Wouden CH, van Rhenen MH, Jama WOM, et al. Development of the PGx-passport: a panel of actionable germline genetic variants for pre-emptive pharmacogenetic testing. Clin Pharmacol Ther. 2019;106(4):866–873. doi:10.1002/cpt.148931038729
   PubMed Web of Science ®Google Scholar
• Gould MK, Garcia DA, Wren SM, et al. Prevention of VTE in nonorthopedic surgical patients: antithrombotic therapy and prevention of thrombosis, 9th ed: American College of Chest Physicians Evidence-Based Clinical Practice Guidelines. Chest. 2012;141(2 Suppl):e227S–e277S. doi:10.1378/chest.11-229722315263
   PubMed Web of Science ®Google Scholar
• Jhun EH, Apfelbaum JL, Dickerson DM, et al. Pharmacogenomic considerations for medications in the perioperative setting. Pharmacogenomics. 2019;20(11):813–827. doi:10.2217/pgs-2019-004031411557
   PubMed Web of Science ®Google Scholar
• Kaye AD, Mahakian T, Kaye AJ, et al. Pharmacogenomics, precision medicine, and implications for anesthesia care. Best Pract Res Clin Anaesthesiol. 2018;32(2):61–81. doi:10.1016/j.bpa.2018.07.00130322465
   PubMed Web of Science ®Google Scholar
• Trescot AM. Genetics and implications in perioperative analgesia. Best Pract Res Clin Anaesthesiol. 2014;28(2):153–166. doi:10.1016/j.bpa.2014.03.00424993436
   PubMedGoogle Scholar
• Levano S, Ginz H, Siegemund M, et al. Genotyping the butyrylcholinesterase in patients with prolonged neuromuscular block after succinylcholine. Anesthesiology. 2005;102(3):531–535. doi:10.1097/00000542-200503000-0000915731589
   PubMed Web of Science ®Google Scholar