Anaesthetic Management in Mucopolysaccharidoses Patients: Clinical Experience in a Tertiary Hospital.

Abstract

Introduction: Mucopolysaccharidoses (MPS) are a group of rare inherited metabolic diseases caused by the deficiency of enzymes required to degrade glycosaminoglycans (GAGs) in the lysosome with progressive and multiorgan involvement. Due to its progressive nature, a large number of patients need surgical intervention, which is associated with higher perioperative morbidity.Methods: We retrospectively reviewed 29 medical records regarding the peri and post-operative anaesthetic care of 10 children with mucopolysaccharidoses at a tertiary hospital in Northern Portugal between 2010 and 2021. A comprehensive review of the literature is also included.Results: Twenty-nine medical records of 10 patients with a mean age of 8.8 years old were included. At the time of the procedure, 65.5% of patients were under enzymatic replacement and all had some type of organ involvement.Each patient was subjected to 2.9 elective procedures on average, with the lowest age of two years at the first procedure. Regarding surgical specialties, 41.4% of interventions were orthopaedic. Balanced anaesthesia with inhalational induction and spontaneous breathing was performed in 48.3% of cases, with no reports of difficult bag-mask ventilation. Endotracheal intubation in the operating room was performed in nine cases. Direct laryngoscopy with a Macintosh blade was the first option in seven patients. Success was achieved only in three cases. Failed intubation was managed with a paediatric C-MAC® video laryngoscope (VLG; one case) and fiberoptic bronchoscopy (two cases). Video laryngoscopy and fibroscopy were the first choices in one case each. Post-operative complications were registered in 10 procedures (34.5%), with airway and pulmonary complications in 17.2%. All complications occurred in different patients except for post-operative nausea and vomiting, which were registered in three cases, two of them in the same patient at different orthopaedic surgical interventions.Discussion: The high percentage of direct laryngoscopy could be related to the greater number of interventions performed in a period when indirect methods were not so widely used in anaesthetic practice, and the high rate of failure highlights the importance of transitioning to indirect techniques upon the first attempt. The high percentage of patients under enzymatic treatment can explain the low number of adverse airway events. High-quality evidence regarding MPS is lacking in the literature. Prospective studies would improve the perioperative care of this particular subset of patients.Conclusion: Patients with MPS represent a huge challenge for the anaesthesiologist, mainly in view of airway management. The integration of all available data in clinical practice is essential to optimize perioperative management of mucopolysaccharidoses patients’ management and improve clinical outcomes.