Pain assessment and treatment in patients with mucopolysaccharidoses: a French multicentric pediatric study

Mucopolysaccharidoses (MPS) are a group of rare genetic lysosomal storage disorders with a wide spectrum of clinical severities. Chronic pain is frequent but difficult to assess. The aim of this study was to evaluate the detection and management of pain in pediatric MPS patients.

Pain-related data were retrospectively collected from the medical records of pediatric MPS patients from five French centers for inborn metabolic disorders. A national online survey was also conducted about the feelings of patients and/or their families and of healthcare professionals about the detection and management of pain in pediatric MPS patients.

The medical records of 48 patients with all subtypes of MPS were analyzed. Pain was frequent and recurrent in MPS patients (pain was reported in 94% of the patients), but it was undoubtedly difficult to assess. We observed important differences between (1) medical records demonstrating frequent assessment and treatment of pain, (2) feelings of patients or their families (53 questionnaires) reporting frequent pain, and (3) feelings of healthcare professionals (21 questionnaires) who were quite satisfied with their own practices, suggesting that the majority of patients were unpainful. We recommend a more systematic evaluation of pain, particularly for outpatients, with the use of adapted tools, notably in children with disabilities, and with a multidimensional approach to pain assessment and management. Caregiver training is also needed, and close collaboration with pain centers is encouraged.

A routine pain assessment protocol for MPS patients is required that covers the entire spectrum of pain and can be adapted for every type of patient, including those with neurocognitive and motor impairments.