The impact of laronidase treatment in otolaryngological manifestations of patients with mucopolysaccharidosis

Ana Paula Fiuza Funicello Dualibi,Ana Maria Martins,Gustavo Antônio Moreira,Marisa Frasson De Azevedo,Reginaldo Raimundo Fujita,Shirley Shizue Nagata Pignatari

doi:10.1016/j.bjorl.2015.09.006

Ana Paula Fiuza Funicello Dualibi, Ana Maria Martins + Show 4 more

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https://doi.org/10.1016/j.bjorl.2015.09.006

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Abstract

IntroductionMucopolysaccharidosis (MPS) is a lysosomal storage disease caused by deficiency of α-l-iduronidase. The otolaryngological findings include hearing loss, otorrhea, recurrent otitis, hypertrophy of tonsils and adenoid, recurrent rhinosinusitis, speech disorders, snoring, oral breathing and nasal obstruction. ObjectiveTo evaluate the impact of enzymatic replacement therapy with laronidase (Aldurazyme®) in patients with mucopolysaccharidosis (MPS I), regarding sleep and hearing disorders, and clinical manifestations in the upper respiratory tract (URT). MethodsNine patients with MPS I (8 Hurler-Scheie, and 1 Scheie phenotypes) of both sexes, ages ranging between 3 and 20 years, were included in this study. Patients were evaluated between seven and 11 months before the treatment and between 16 and 22 months after the onset of the enzymatic replacement. They were all submitted to a clinical and otolaryngological evaluation, including nasofibroscopical, polysomnographic and audiologic exams. ResultsThe results’ data showed decreasing of the frequency of ear, nose and throat infections, with improvement of the rhinorrhea and respiratory quality. No remarkable changes were observed regarding macroglossia and tonsil and adenoid hypertrophy. Audiometric and polysomnographic evaluations did not show statistical significance. ConclusionEnzymatic replacement therapy in patients with mucopolysaccharidosis I provides control of recurrent URT infections, rhinorrhea and respiratory quality, however it is does not seem to improve audiologic and polisomnographic parameters, with no effect on adenoid and tonsils hypertrophy and macroglossia.

Highlights

Mucopolysaccharidosis (MPS) is a lysosomal storage disease caused by deficiency of ␣-l-iduronidase
Mucopolysaccharidosis (MPS) is a lysosomal storage disease caused by deficiency of an enzyme involved in the degradation of glycosaminoglycans (GAGs)
The data obtained from polysomnographic examination (PSG) were analyzed according to the parameters defined by the American Thoracic Society.[30,31]

Summary

Introduction

Mucopolysaccharidosis (MPS) is a lysosomal storage disease caused by deficiency of ␣-l-iduronidase. The otolaryngological findings include hearing loss, otorrhea, recurrent otitis, hypertrophy of tonsils and adenoid, recurrent rhinosinusitis, speech disorders, snoring, oral breathing and nasal obstruction. Patients were evaluated between seven and 11 months before the treatment and between 16 and 22 months after the onset of the enzymatic replacement They were all submitted to a clinical and otolaryngological evaluation, including nasofibroscopical, polysomnographic and audiologic exams. MPS I is caused by deficiency of ␣-l-iduronidase, which leads to intralysosomal deposits of dermatan and heparan sulfate It is an autosomic recessive genetic disease, with estimated incidence varying from 1:100,000 for severe cases to 1:800,000 for cases with mild manifestations.[4]. The most frequent symptoms include hearing loss, otorrhea, recurrent otitis, hypertrophy of tonsils and adenoid, recurrent rhinosinusitis, speech disorders, snoring, oral breathing and nasal obstruction.[1,2,6]

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