Anesthetic Management of Rare Diseases: Insights from Four Compelling Case Reports

Moncef Choubhi *

Department of Anesthesiology and Intensive Care, Mohammed V Military Hospital, Faculty of Medicine and Pharmacy, Mohammed V University, Rabat, Morocco.

Mohamed Alioui

Department of Anesthesiology and Intensive Care, Mohammed V Military Hospital, Faculty of Medicine and Pharmacy, Mohammed V University, Rabat, Morocco.

Yousra Ouhammou

Department of Scientific Research, Faculty of Medicine and Pharmacy, Mohammed V University, Rabat, Morocco.

Wiam El Jellouli

Department of Scientific Research, Faculty of Medicine and Pharmacy, Mohammed V University, Rabat, Morocco.

Taoufik Kachani

Department of Anesthesiology and Intensive Care, Mohammed V Military Hospital, Faculty of Medicine and Pharmacy, Mohammed V University, Rabat, Morocco.

Houda Nadir

Department of Scientific Research, Faculty of Medicine and Pharmacy, Mohammed V University, Rabat, Morocco.

Khalil Abou Elalaa

Department of Anesthesiology and Intensive Care, Mohammed V Military Hospital, Faculty of Medicine and Pharmacy, Mohammed V University, Rabat, Morocco.

*Author to whom correspondence should be addressed.


Abstract

Background: Rare diseases, with a prevalence of 4% globally, often manifest with diverse and challenging clinical presentations. Anesthetic management for these conditions demands a nuanced understanding of pathophysiology, potential complications, and interactions with anesthetic agents. This study aims to shed light on the anesthetic challenges posed by rare diseases through a detailed analysis of four cases. By exploring the complexities encountered in Hurler's disease, Rubinstein-Taybi syndrome, Churg-Strauss Syndrome, and Xeroderma Pigmentosum, we seek to contribute valuable insights into the adaptability required in anesthetic approaches for these unique patient populations.

Discussion: Through the exploration of four distinct cases, we have unraveled the intricacies surrounding anesthetic management in rare diseases. Each case highlighted the imperative need for adaptability, meticulous planning, and collaboration across medical disciplines to ensure favorable perioperative outcomes.

The success in managing Hurler's disease underscored the significance of tailored plans integrating enzyme replacement therapy and detailed preoperative assessments. Similarly, addressing difficult airway challenges in Rubinstein-Taybi syndrome showcased the adaptability essential in unique anatomical scenarios. Careful consideration of Churg-Strauss Syndrome's complexities emphasized the avoidance of specific agents and meticulous monitoring. The case of Xeroderma Pigmentosum highlighted the importance of adaptability, shifting from insufficient spinal anesthesia to general anesthesia promptly.

Conclusion: These observations stress the critical role of a patient-centric approach, multidisciplinary collaboration, and adaptability in navigating the diverse challenges presented by rare diseases. In conclusion, this study offers valuable insights into refining anesthetic strategies, ensuring personalized and safe care for patients with rare diseases.

Keywords: Anesthetic challenges, rare diseases, perioperative care, case reports


How to Cite

Choubhi , M., Alioui , M., Ouhammou , Y., Jellouli , W. E., Kachani , T., Nadir , H., & Elalaa , K. A. (2024). Anesthetic Management of Rare Diseases: Insights from Four Compelling Case Reports. Asian Journal of Case Reports in Medicine and Health, 7(1), 10–17. Retrieved from https://journalajcrmh.com/index.php/AJCRMH/article/view/180

Downloads

Download data is not yet available.

References

Cortial L, Nguyen C, Julkowska D, Cocqueel-Tiran F, Moliner AM, Blin O, Trentesaux V. Managing rare diseases:examples of national approaches in Europe, North America and East Asia. Rare Dis Orphan Drugs J. 2022;1:10. Available:http://dx.doi.org/10.20517/rdodj.2022.02

Moliner AM, Waligora J. The european union policy in the field of rare diseases. In: Posada de la Paz M, Taruscio D, Groft S. (eds) rare diseases epidemiology: Update and overview. Advances in Experimental Medicine and Biology. Springer, Cham. 2017;1031. Available:https://doi.org/10.1007/978-3-319-67144-4_30

Dawkins HJS, Draghia-Akli R, Lasko P, Lau LPL, Jonker AH, Cutillo CM, Rath A, Boycott KM, Baynam G, Lochmüller H, Kaufmann P, Le Cam Y, Hivert V, Austin CP. International Rare Diseases Research Consortium (IRDiRC). Progress in rare diseases research 2010-2016: An IRDiRC perspective. Clin TranslSci. 2018 Jan;11(1):11-20. DOI: 10.1111/cts.12501. Epub 2017 Oct 23. PMID: 28796411 PMCID: PMC5759730

Schimpf J, Münster T. Seltene erkrankungen in der anästhesie : Wissensbeschaffung und kernpunkte der perioperativen anästhesiologischen versorgung [rare diseases in anesthesia : Knowledge mining and core points of perioperative anesthesiological care]. Anaesthesiologie. German. 2023 Dec;72(12):907-918. DOI: 10.1007/s00101-023-01353-6 Epub 2023 Nov 10 PMID: 37947803

Kumar W, Belani G, Elizabeth A, Braunlin A, Bruce H, Paul R. Harmatz J. anaesthesia and airway management in mucopolysaccharidosis. J InheritMetab Dis. 2013;36:211–219.

Imai T, Sakai D, Schol J, Nagai T, Hiyama A, Katoh H, Sato M, Watanabe M. Rubinstein-Taybi syndrome with scoliosis treated with single-stage posterior spinal fusion: Illustrative case. J Neurosurg Case Lessons. 2021 Mar 15;1(11):CASE20110. DOI: 10.3171/CASE20110 PMID: 35855076 PMCID: PMC9241218

Barbosa H, Brás A, Martins M, Coroa M, Marcos A. Anesthesia management in a patient wit hChurg-Strauss syndrome in the ambulatory setting: A case report. Rev Esp Anestesiol Reanim (Engl Ed). 2023 Dec;70(10):593-595. DOI: 10.1016/j.redare.2022.03.005. Epub 2023 Sep 4 PMID: 37666453

Shrestha GS, Sah RP, Amatya AG, Shrestha N. Anaesthetic management of patients with Xeroderma pigmentosum. A series of three cases. Nepal Med Coll J. 2011 Sep;13(3):231-2. PMID: 22808824

Gorini F, Coi A, Mezzasalma L, et al. Survival of patients with rare diseases: A population-based study in Tuscany (Italy). Orphanet Journal of Rare Diseases. 2021;16(1):275.

Mitani AA, Haneuse S. Small data challenges of studying rare diseases. JAMA Netw Open. 2020 Mar 2;3(3):e201965. DOI: 10.1001/jamanetworkopen.2020.1965 PMID: 32202640.

Baynam G, Bowman F, Lister K. Improved diagnosis and care for rare diseases through implementation of precision public health framework. Adv Exp Med Biol. 2017;1031:55-94. DOI: 10.1007/978-3-319-67144-4_4 PMID: 29214566

Adachi T, El-Hattab AW, Jain R, Nogales Crespo KA, Quirland Lazo CI, Scarpa M, Summar M, Wattanasirichaigoon D. Enhancing equitable access to rare disease diagnosis and treatment around the world: a review of evidence, policies, and challenges. Int J Environ Res Public Health. 2023 Mar 8;20(6):4732. DOI: 10.3390/ijerph20064732 PMID: 36981643 PMCID: PMC10049067

Prottengeier J, Weith T. Maladies orphelines: Impact sur la pratique de l'anesthésie. Current Opinion in Anaesthesiology. 2015;28(6):691-696.

Clark BM, Sprung J, Weingarten TN, Warner ME. Anesthesia for patients with mucopolysaccharidoses: Comprehensive review of the literature with emphasis on airway management. Bosn J Basic Med Sci. 2018 Feb 20;18(1):1-7. DOI: 10.17305/bjbms.2017.2201 PMID: 28590232; PMCID:

Ahmed Z, Rufo PA. Pediatric preoperative management; 2022 May 29. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023 Jan–. PMID: 32644624.

Zambouri A. Preoperative evaluation and preparation for anesthesia and surgery. Hippokratia. 2007;11(1): 13-21.

Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. Gene Reviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. PMID: 20301295.

Avidan MS, Mashour GA. Prevention of intraoperative awareness with explicit recall: Making sense of the evidence. Anesthesiology. 2013 Feb;118(2): 449-56. DOI: 10.1097/ALN.0b013e31827ddd2c PMID: 23263014

Dexter F, Bayman EO, Epstein RH. Statistical modeling of average and variability of time to extubation for meta-analysis comparing desflurane to sevoflurane. Anesth Analg. 2010 Feb 1;110(2):570-80. DOI: 10.1213/ANE.0b013e3181b5dcb7 Epub 2009 Oct 9 PMID: 19820242

Sessler DI. Perioperative thermoregulation and heat balance. Lancet. 2016 Jun 25;387(10038):2655-2664. DOI: 10.1016/S0140-6736(15)00981-2 Epub 2016 Jan 8 PMID: 26775126

Gan TJ, Meyer TA, Apfel CC, Chung F, Davis PJ, Habib AS, Hooper VD, Kovac AL, Kranke P, Myles P, Philip BK, Samsa G, Sessler DI, Temo J, Tramèr MR, Vander Anesthesia guidelines for the management of postoperative nausea and vomiting. Table of contents. Anesth Analg. 2007 Dec;105(6): 1615-28. DOI:10.1213/01.ane.0000295230.55439.f4 PMID: 18042859