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Alterations of mucosa of the larynx and hypopharynx in patients with mucopolysaccharidoses

Published online by Cambridge University Press:  17 December 2015

A Keilmann ,
F Bendel ,
S Nospes ,
C Lampe  and
A K Läßig
A Keilmann*
Affiliation:
Voice Care Center, Bad Rappenau, Germany
F Bendel
Affiliation:
Division of Communication Disorders, Department of ORL, University Medical Center, Mainz, Germany
S Nospes
Affiliation:
Division of Communication Disorders, Department of ORL, University Medical Center, Mainz, Germany
C Lampe
Affiliation:
Center for Rare Diseases, Department of Child and Adolescent Medicine, Horst Schmidt Klinik, Wiesbaden, Germany
A K Läßig
Affiliation:
Division of Communication Disorders, Department of ORL, University Medical Center, Mainz, Germany
*
Address for correspondence: Prof Annerose Keilmann, Stimmheilzentrum Bad Rappenau, Salinenstr. 43, 74906 Bad Rappenau, Germany Fax: +49 7264 808 4570 E-mail: annerosekeilmann@stimmheilzentrum.de
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Abstract

Objective:

This study aimed to: assess the mucosal alterations of the larynx and hypopharynx typical for mucopolysaccharidoses, in a standardised manner; compare the severity in different subtypes of mucopolysaccharidoses; and monitor the effect of an enzyme replacement therapy.

Methods:

A classification for mucosal alterations of the larynx and hypopharynx was developed and utilised in 55 patients with mucopolysaccharidoses. Fifteen patients who started treatment with enzyme replacement therapy were followed longitudinally.

Results:

The most severe alterations were seen in the posterior region of the larynx and the arytenoids, and in the region of the false vocal folds. The alterations were most severe in patients with mucopolysaccharidosis II. No clear trend was observed in the patients who received enzyme replacement therapy.

Conclusion:

Quantification of mucosal alterations of the hypopharynx and larynx in mucopolysaccharidoses patients can provide information about the disease's natural process and about the efficacy of enzyme replacement therapy.

Keywords

MucopolysaccharidosesLarynxHypopharynxAirway Obstruction
Type
Main Articles
Information
The Journal of Laryngology & Otology , Volume 130 , Issue 2 , February 2016 , pp. 194 - 200
Copyright
Copyright © JLO (1984) Limited 2015 

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Footnotes

Parts of this paper were presented at the 30th Annual Meeting of the German Society for Phoniatrics and Pedaudiology, 20–22 September 2013, Bochum, Germany.

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