Critical clinical situations in adult patients with Mucopolysaccharidoses (MPS)

Show simple item record Stepien, Karolina M. Gevorkyan, Anait K. Hendriksz, Christian J. Lobzhanidze, Tinatin V. Perez-Lopez, Jordi Tol, Govind Del Toro Riera, Mireia Vashakmadze, Nato D. Lampe, Christina 2021-05-18T09:35:53Z 2021-05-18T09:35:53Z 2020-05-14
dc.description Supplementary Information. Preoperative assessment. en_ZA
dc.description.abstract BACKGROUND : Mucopolysaccharidoses (MPS) are rare, inherited disorders associated with enzyme deficiencies that result in glycosaminoglycan (GAG) accumulation in multiple organ systems. Management of MPS is evolving as patients increasingly survive to adulthood and undergo multiple surgeries throughout their lives. As surgeries in these patients are considered to be high risk, this can result in a range of critical clinical situations in adult patients. RESULTS : We discuss strategies to prepare for and manage critical clinical situations in adult patients with MPS, including supporting the multidisciplinary team, preoperative and airway assessments, surgical preparations, and postoperative care. We also present eight critical clinical cases (age range: 21–38 years) from four leading inherited metabolic disease centres in Europe to highlight challenges and practical solutions to optimise the care of adult patients with MPS. Critical clinical situations included surgical procedures, pregnancy and a thrombus in a port-acath. CONCLUSIONS : Individualised strategies to manage critical clinical situations need to be developed for each patient to compensate for the heterogeneous symptoms that may be present and the potential complications that may occur. These strategies should include input from the wider MDT, and be coordinated by metabolic specialists with expertise in the management of MPS disorders and surgery in adult patients with MPS. en_ZA
dc.description.department Paediatrics and Child Health en_ZA
dc.description.librarian am2021 en_ZA
dc.description.sponsorship BioMarin Europe Ltd en_ZA
dc.description.uri en_ZA
dc.identifier.citation Stepien, K.M., Gevorkyan, A.K., Hendriksz, C.J. et al. 2020, 'Critical clinical situations in adult patients with Mucopolysaccharidoses (MPS)', Orphanet Journal of Rare Diseases, vol. 15, art. 114, pp. 1-12. en_ZA
dc.identifier.issn 1750-1172
dc.identifier.other 10.1186/s13023-020-01382-z
dc.language.iso en en_ZA
dc.publisher BioMed Central en_ZA
dc.rights © The Author(s). 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License. en_ZA
dc.subject Adults en_ZA
dc.subject Anaesthesia en_ZA
dc.subject Multidisciplinary team en_ZA
dc.subject Surgical procedures en_ZA
dc.subject Mucopolysaccharidoses (MPS) en_ZA
dc.subject Glycosaminoglycan en_ZA
dc.title Critical clinical situations in adult patients with Mucopolysaccharidoses (MPS) en_ZA
dc.type Article en_ZA

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