Decades of ongoing research and clinical experience have produced a new era in the optimal management of mucopolysaccharidosis (MPS) disorders. This rapidly evolving standard of care for MPS relies on the geneticist at the centre of a healthcare delivery model that embodies coordinated, multidisciplinary care and provides physicians unmatched opportunities to change patients’ lives.1–3
Because MPS disorders are associated with a wide array of central and peripheral nervous system abnormalities, neurologists play a critical role in the ongoing assessment and management of these patients and can make a significant contribution to their ongoing care.1,4–7
The heterogeneous and variable nature of MPS disorders necessitates a personalised approach to coordinated patient care, starting at the medical home.1 The aim of coordinated care is to help patients achieve a greater quality of life, which includes:
For paediatric patients with chronic, complex, multisystemic genetic disease such as MPS, care through a coordinated medical home is associated with reduction in healthcare utilisation and improved health outcomes.8–11
Coordination must be implemented across all elements of the broader healthcare system (e.g. speciality care, hospitals, home healthcare, and community services) and within patients’ individualised management plans.3
Given the wide array of central and peripheral nervous system abnormalities, the role of neurologists in the medical home can be essential to the implementation of best practices in the management of MPS disorders and improvement of patient outcomes.1,2
Application of optimal MPS disease management, grouped into the following 3 pillars of care, can help to improve patient outcomes:
As part of a coordinated approach, neurologists contribute to individualised management plans that address lifelong management and procedural care, ultimately helping to optimise patient outcomes.1,4–7
Best practices in lifelong management can help to improve clinical outcomes and patients’ quality of life.6,15,17
While each subtype of MPS disorder is clinically distinct, all feature the life-limiting, progressive, multisystemic disease manifestations common to MPS disease pathology.14,15,23,24 Management of patients with MPS requires an understanding of the specific clinical manifestations and management recommendations for each MPS subtype.2,13
Optimal bilateral labour analgesia was not achieved despite multiple adjustments, and systemic analgesia was needed for caesarean delivery.
Delays to diagnosis occurred due to the lack of or distance to diagnostic facilities, alternative diagnoses, and misleading symptoms experienced. Several patients experienced manifestations that were subtler than would be expected and were subsequently overlooked. Cases also highlighted the unique challenges associated with diagnosing MPS VI from the perspective of different specialities and provide insights into how these patients initially present.
Our current understanding of other cardiac issues in adults with the MPSs, especially with the coronary circulation and myocardium, is meagre and more needs to be known to effectively care for this emerging population of adults.