Anaesthetic Implications of the Changing Management of Patients with Mucopolysaccharidosis

Abstract

The mucopolysaccharidoses are a group of inherited metabolic disorders that are renowned for presenting clinical problems, particularly related to cardiac, airway, and skeletal abnormalities, in children during anaesthesia. The changing clinical management of the mucopolysaccharidoses can be described in three phases. An initial phase of accumulation and dissemination of knowledge about the management of this rare disease with a growing recognition that untreated Hurler syndrome and more severe forms of other phenotypes such as Hunter syndrome and Maroteaux-Lamy syndrome were associated with severe complications under anaesthesia. This was followed by a second phase reflecting the beneficial results of new treatments such as haemopoietic stem cell transplantation and enzyme replacement therapy. Early and successful transplantation has dramatically improved long-term outcome and reduced anaesthetic complications in children with Hurler syndrome. Enzyme replacement therapy is available for many forms of mucopolysaccharidosis. If commenced at an early age improvement in many organ systems may be observed with an improved quality of life. However, these current treatment regimens do not appear to improve neurocognitive dysfunction, or cardiac valvular or skeletal abnormalities. We are now entering a third phase where the partial benefits of these treatment regimens are resulting in an increasing number of older patients with partially corrected abnormalities, including difficult airways, presenting for ongoing treatment to a new and potentially unsuspecting group of clinicians. Major airway abnormalities may be encountered and current adult guidelines may need to be adapted. A multidisciplinary team approach involving paediatric and adult anaesthetists is recommended to optimise future management.

Anesthesia for patients with mucopolysaccharidoses: Comprehensive review of the literature with emphasis on airway management

“…27/M, NS [45] MG, cervical myelopathy, OSA, restricted lung disease. AM: Awake FOI  postoperative tongue/lip swelling  extubated on POD 2 25/F, MVR [45] Narrowed glottis. AM: FOI for planned tracheostomy  5 days mechanical ventilation  decannulated after 6 weeks.…”

“…AM: FOI for planned tracheostomy  5 days mechanical ventilation  decannulated after 6 weeks. 18/M, ENT [45] Subglottic and distal tracheal narrowing, OSA. AM: desaturation with LMA  awake FOI  tracheostomy MPS II 14/F, HR, ENT [25] MG, CFA, and CSA, short stature, OSA.…”

A retrospective comparison of propofol to dexmedetomidine for pediatric magnetic resonance imaging sedation in patients with mucopolysaccharidosis type II

“…Taken together, these results suggest that the effect of dexmedetomidine on airway permeability is minimal in patients who are expected to have difficult airways. Patients with MPS present with clinical manifestations of upper airway obstruction similar to those of patients with OSA, due to the reduced diameter of the upper airway caused by mucosal swelling associated with inflammation and deposition of GAGs . This explains why dexmedetomidine group showed a significantly reduced need for artificial airway interventions compared with the propofol group in our study.…”

“…Therefore, our center has historically used propofol as a sedative for pediatric MRI scans. However, propofol can increase the risk of airway obstruction because of its dose‐dependent effects on the upper airway . Such airway obstruction often occurs in patients expected to have difficult airways, such as patients with MPS .…”

“…However, propofol can increase the risk of airway obstruction because of its dose-dependent effects on the upper airway. 15 Such airway obstruction often occurs in patients expected to have difficult airways, such as patients with MPS. 4 In particular, patients with MPS type II have increased incidence of difficult airway compared to the general patient population and require repeated MRI to follow the progression of the disease.…”