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.
