Critical clinical situations in adult patients with Mucopolysaccharidoses (MPS).

Autor: Stepien KM; The Mark Holland Metabolic Unit, Adult Inherited Metabolic Diseases, Salford Royal NHS Foundation Trust, Salford, M6 8HD, UK. karolina.stepien@srft.nhs.uk., Gevorkyan AK; Research Center for Children's Health, Moscow, Russian Federation., Hendriksz CJ; University of Pretoria, Pretoria, South Africa., Lobzhanidze TV; Research Center for Children's Health, Moscow, Russian Federation., Pérez-López J; Vall d'Hebron University Hospital, Barcelona, Spain., Tol G; Anaesthetics Department, Salford Royal NHS Foundation Trust, Stott Lane, Salford, M6 8HD, UK., Del Toro Riera M; Vall d'Hebron University Hospital, Barcelona, Spain., Vashakmadze ND; Research Center for Children's Health, Moscow, Russian Federation., Lampe C; HELIOS Dr. Horst Schmidt Kliniken Wiesbaden, Wiesbaden, Germany.
Jazyk: angličtina
Zdroj: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2020 May 14; Vol. 15 (1), pp. 114. Date of Electronic Publication: 2020 May 14.
DOI: 10.1186/s13023-020-01382-z
Abstrakt: 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-a-cath.
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.
Databáze: MEDLINE
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