Critical clinical situations in adult patients with Mucopolysaccharidoses (MPS)

dc.contributor.authorStepien, Karolina M.
dc.contributor.authorGevorkyan, Anait K.
dc.contributor.authorHendriksz, Christian J.
dc.contributor.authorLobzhanidze, Tinatin V.
dc.contributor.authorPerez-Lopez, Jordi
dc.contributor.authorTol, Govind
dc.contributor.authorDel Toro Riera, Mireia
dc.contributor.authorVashakmadze, Nato D.
dc.contributor.authorLampe, Christina
dc.date.accessioned2021-05-18T09:35:53Z
dc.date.available2021-05-18T09:35:53Z
dc.date.issued2020-05-14
dc.descriptionSupplementary Information. Preoperative assessment.en_ZA
dc.description.abstractBACKGROUND : 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.departmentPaediatrics and Child Healthen_ZA
dc.description.librarianam2021en_ZA
dc.description.sponsorshipBioMarin Europe Ltden_ZA
dc.description.urihttp://www.ojrd.comen_ZA
dc.identifier.citationStepien, 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.issn1750-1172
dc.identifier.other10.1186/s13023-020-01382-z
dc.identifier.urihttp://hdl.handle.net/2263/79941
dc.language.isoenen_ZA
dc.publisherBioMed Centralen_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.subjectAdultsen_ZA
dc.subjectAnaesthesiaen_ZA
dc.subjectMultidisciplinary teamen_ZA
dc.subjectSurgical proceduresen_ZA
dc.subjectMucopolysaccharidoses (MPS)en_ZA
dc.subjectGlycosaminoglycanen_ZA
dc.titleCritical clinical situations in adult patients with Mucopolysaccharidoses (MPS)en_ZA
dc.typeArticleen_ZA

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