Cargando…
Otolaryngologists and the Early Diagnosis of Mucopolysaccharidoses: A Cross-Sectional Study
Mucopolysaccharidoses (MPS) are a group of inborn errors of metabolism with an aggressive and usually fatal course. Therefore, early treatment is essential because the involvement of head and neck structures is almost always present in MPS. Our study aimed to retrospectively assess—via a chart revie...
Autores principales: | , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6963463/ https://www.ncbi.nlm.nih.gov/pubmed/31766106 http://dx.doi.org/10.3390/diagnostics9040187 |
_version_ | 1783488285043064832 |
---|---|
author | Torres, Danielle de Araujo Barth, Anneliese Lopes Valente, Mariana Pires de Mello de Mello, Paulo Pires Horovitz, Dafne Dain Gandelman |
author_facet | Torres, Danielle de Araujo Barth, Anneliese Lopes Valente, Mariana Pires de Mello de Mello, Paulo Pires Horovitz, Dafne Dain Gandelman |
author_sort | Torres, Danielle de Araujo |
collection | PubMed |
description | Mucopolysaccharidoses (MPS) are a group of inborn errors of metabolism with an aggressive and usually fatal course. Therefore, early treatment is essential because the involvement of head and neck structures is almost always present in MPS. Our study aimed to retrospectively assess—via a chart review and a survey of caregivers—the history of ear, nose and throat (ENT) symptoms, the number of otolaryngology visits prior to diagnosis, and whether otolaryngologists diagnosed the disease in a cohort of MPS patients followed at an academic medical center. Twenty-three patients were evaluated. Age at diagnosis ranged from 0.2 to 33.0 years (median, 3.2 years). Prior to being diagnosed with MPS, 20/23 (87%) patients presented with at least one episode of otalgia, airway disorder, sleep disturbance, speech delay or suspected hearing loss. One patient had an adenotonsillectomy with paracentesis of tympanic membranes. Ten of the 23 patients (43%) were seen by an otolaryngologist before the diagnosis of MPS, none of which had the disease suspected during these visits. Notwithstanding limitations, our results suggest that increased awareness of MPS among otolaryngologists may allow for earlier diagnosis and better management of these patients. |
format | Online Article Text |
id | pubmed-6963463 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-69634632020-01-30 Otolaryngologists and the Early Diagnosis of Mucopolysaccharidoses: A Cross-Sectional Study Torres, Danielle de Araujo Barth, Anneliese Lopes Valente, Mariana Pires de Mello de Mello, Paulo Pires Horovitz, Dafne Dain Gandelman Diagnostics (Basel) Article Mucopolysaccharidoses (MPS) are a group of inborn errors of metabolism with an aggressive and usually fatal course. Therefore, early treatment is essential because the involvement of head and neck structures is almost always present in MPS. Our study aimed to retrospectively assess—via a chart review and a survey of caregivers—the history of ear, nose and throat (ENT) symptoms, the number of otolaryngology visits prior to diagnosis, and whether otolaryngologists diagnosed the disease in a cohort of MPS patients followed at an academic medical center. Twenty-three patients were evaluated. Age at diagnosis ranged from 0.2 to 33.0 years (median, 3.2 years). Prior to being diagnosed with MPS, 20/23 (87%) patients presented with at least one episode of otalgia, airway disorder, sleep disturbance, speech delay or suspected hearing loss. One patient had an adenotonsillectomy with paracentesis of tympanic membranes. Ten of the 23 patients (43%) were seen by an otolaryngologist before the diagnosis of MPS, none of which had the disease suspected during these visits. Notwithstanding limitations, our results suggest that increased awareness of MPS among otolaryngologists may allow for earlier diagnosis and better management of these patients. MDPI 2019-11-13 /pmc/articles/PMC6963463/ /pubmed/31766106 http://dx.doi.org/10.3390/diagnostics9040187 Text en © 2019 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Torres, Danielle de Araujo Barth, Anneliese Lopes Valente, Mariana Pires de Mello de Mello, Paulo Pires Horovitz, Dafne Dain Gandelman Otolaryngologists and the Early Diagnosis of Mucopolysaccharidoses: A Cross-Sectional Study |
title | Otolaryngologists and the Early Diagnosis of Mucopolysaccharidoses: A Cross-Sectional Study |
title_full | Otolaryngologists and the Early Diagnosis of Mucopolysaccharidoses: A Cross-Sectional Study |
title_fullStr | Otolaryngologists and the Early Diagnosis of Mucopolysaccharidoses: A Cross-Sectional Study |
title_full_unstemmed | Otolaryngologists and the Early Diagnosis of Mucopolysaccharidoses: A Cross-Sectional Study |
title_short | Otolaryngologists and the Early Diagnosis of Mucopolysaccharidoses: A Cross-Sectional Study |
title_sort | otolaryngologists and the early diagnosis of mucopolysaccharidoses: a cross-sectional study |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6963463/ https://www.ncbi.nlm.nih.gov/pubmed/31766106 http://dx.doi.org/10.3390/diagnostics9040187 |
work_keys_str_mv | AT torresdanielledearaujo otolaryngologistsandtheearlydiagnosisofmucopolysaccharidosesacrosssectionalstudy AT barthannelieselopes otolaryngologistsandtheearlydiagnosisofmucopolysaccharidosesacrosssectionalstudy AT valentemarianapiresdemello otolaryngologistsandtheearlydiagnosisofmucopolysaccharidosesacrosssectionalstudy AT demellopaulopires otolaryngologistsandtheearlydiagnosisofmucopolysaccharidosesacrosssectionalstudy AT horovitzdafnedaingandelman otolaryngologistsandtheearlydiagnosisofmucopolysaccharidosesacrosssectionalstudy |