Critical clinical situations in adult patients with Mucopolysaccharidoses (MPS)

Karolina M Stepien,Christian J Hendriksz,Tinatin V Lobzhanidze,Anait K Gevorkyan,Nato D Vashakmadze,Jordi Pérez-López,Govind Tol,Mireia Del Toro Riera,Christina Lampe

doi:10.1186/s13023-020-01382-z

Abstract

BackgroundMucopolysaccharidoses (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.ResultsWe 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.ConclusionsIndividualised 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.

Highlights

Mucopolysaccharidoses (MPS) are rare, inherited disorders associated with enzyme deficiencies that result in glycosaminoglycan (GAG) accumulation in multiple organ systems
Strategies to manage critical clinical situations in adults with MPS Alongside collection of cases, healthcare professionals (HCPs) provided key strategies that support the management of patients with MPS through critical clinical situations
The preoperative assessment The importance of a thorough preoperative assessment was highlighted as being key in bringing together the members of the multidisciplinary team (MDT) who will be involved in managing the critical clinical situation, ensuring that all necessary information is obtained and an expert opinion is provided (Supplementary information: Multidisciplinary review and MPS Passport)

Summary

Introduction

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. Enzyme replacement therapies (ERTs) are available for the management of some symptoms in some MPS subtypes, and haematopoietic stem cell transplantation (HSCT) provides a further treatment option [10, 14,15,16,17,18], patients with MPS often require multiple surgeries throughout their lives to manage symptoms and support optimal quality of life [4, 19]. Across the MPS disorders, surgeries include, but are not limited to, cardiac valve replacement, spinal decompression, tracheostomy, hernia repair, corneal transplant tonsillectomy, adenoidectomy, and insertion of ventilation

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