The importance of the otorhinolaryngologic evaluation in mucopolysaccharidosis patients

Summary

Introduction: Mucopolysaccharidosis (MPS) is a group of rare diseases caused by the deficit of lysosomal enzymes, causing an accumulation of glycosaminoglycans (GAG) in organs and tissues responsible for the multi-systemic clinical, chronic and progressive status.

Objective: Describe the profile of the otorhinolaryngologic clinical evaluation in patients submitted to Enzyme Replacement Therapy (ERT) and suggest an algorithm to otorhinolaryngolgically follow up with these patients.

Method: A study with a number of cases was performed, including 21 patients having MPS I, II and VI.

Results: The most common otorhinolaryngological complaints were nasal obstruction, snore, and mouth-breathing. Apnea was reported in 31% of the cases. In the physical examination, macroglossia was the main alteration (41%) of oral pharyngoscopy. At otoscopy, the retraction of the tympanic membrane was found in 33% and hearing loss was found in 45%.

Conclusion: It is important to evaluate the complaints, physical examination and the impact of alterations associated with MPS-produced breathing and hearing, for purposes of better following up with these patients and preventing consequential chronic alterations such as hearing loss, sleep disorder, and mouth breathing, thus, enhancing these patients' quality of life.

Resumo

Introdução: Mucopolissacaridose (MPS) é um conjunto de doenças raras causadas pela deficiência de enzimas lisossômicas levando ao acúmulo de glicosaminoglanos (GAG) em órgãos e tecidos, responsáveis pelo quadro clínico multissistêmico, crônico e progressivo.

Objetivo: Descrever o perfil do exame clínico otorrinolaringológico de pacientes acompanhados no submetidos à Terapia de Reposição Enzimática (TRE) e propor um algoritmo de acompanhamento otorrinolaringológico para estes pacientes.

Método: Realizado estudo de série de casos incluindo 21 pacientes com MPS I, II e VI.

Resultados: As queixas otorrinolaringológicas mais frequentes foram obstrução nasal, roncos, respiração bucal. A presença de apneia foi relatada em 31% dos casos. No exame físico a macroglossia foi a principal alteração (41%) da orofaringoscopia. Na otoscopia, a retração da membrana timpânica esteve presente em 33% e a queixa de hipoacusia esteve presente em 45%.

Conclusão: É importante avaliar as queixas, exame físico e o impacto das alterações associadas à respiração e audição produzidas pela MPS visando um melhor acompanhamento destes pacientes e a prevenção das alterações crônicas resultantes como a perda auditiva, distúrbios do sono e respiração bucal, promovendo assim uma melhor qualidade de vida destes pacientes.

Keywords

glycosaminoglycans - mucopolysaccharidosis - otolaryngology

Palavras-chave

glicosaminoglicanas - mucopolissacaridosesotolaringologia

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