Otorhinolaryngological Management in Taiwanese Patients with Mucopolysaccharidoses

Abstract

Background: Mucopolysaccharidoses (MPSs) are lysosomal storage disorders wherein glycosaminoglycans accumulate because the enzymes that degrade them are insufficient. The earliest symptoms, which are the main reasons for seeking consultation, are otorhinolaryngological and commonly occur in MPS I, II, IV, and VI. This retrospective study aimed to determine the occurrence of otorhinolaryngological manifestations in MPS patients in Taiwan and to analyze the prognosis of surgical intervention, including its effect on symptoms. Methods: We reviewed 42 patients (30 males and 12 females), with a median age of 20.5 years, who had MPS (16.7% type I, 35.7% type II, 19.0% type IIIB, 21.4% type IVA, and 7.2% type VI). The following otorhinolaryngological manifestations were collected: annual number of upper respiratory tract infections (URTIs) and otitis media with effusion (OME) episodes, adenoid size, tonsillar size, and apnea-hypopnea index (AHI). Results: Among 42 patients, we found recurrent otitis media in 42.9% of the patients, hearing loss in 83.3% (mixed: 52.4%, conductive: 21.4%, and sensorineural: 9.5%), frequent URTIs in 47.6%, and obstructive sleep apnea syndrome in 35.7%. Moreover, 76% of the patients underwent ear, nose, and throat (ENT) surgery, including adenoidectomy, tonsillectomy, tympanostomy with ventilation tube insertion, tracheotomy, and supraglottoplasty. Conclusions: MPS patients had a high incidence of ENT problems. ENT surgery reduced the severity of hearing loss, degree of symptoms related to upper airway obstruction, and severity of respiratory tract and otological infections of patients with MPS.

The Anesthetic Strategy for Patients with Mucopolysaccharidoses: A Retrospective Cohort Study

“…A previous study revealed that the used sizes of the ETTs were 0.5 mm or larger than those estimated by Cole’s formula in 29% of pediatric patients with congenital heart disease [ 22 ]. Our initial assumption was that the chosen size could be smaller than the estimated one in MPS type I, II, IV, and VI due to a more frequent occurrence of progressive abnormal laryngeal anatomy, tracheal deformity, and subglottic narrowing [ 5 ]. We found the most significant discrepancy occurred in type IVA patients.…”

“…In this study, only one episode of conversion from SGA to direct ETT intubation was noted. Considering the high percentage (76%) of upper airway obstruction in MPS patients [ 5 ], a thorough preoperative evaluation for the airway is essential to ensure a safer general anesthesia. For each of the MPS patient in our institute, a preprocedural consultation with the experienced otolaryngological doctor is not only routine but a strict rule.…”

“…There are special considerations for anesthetic management according to different systemic involvement of each types of MPS; of these, airway management would meet the highest risk of mortality and morbidity [ 4 ]. The most awkward airway management may occur in type I, II, IV, and VI patients which is similar to the most frequent otorhinolaryngological manifestations [ 5 ].…”