Respiratory and sleep disorders in mucopolysaccharidosis

Kenneth I Berger,Martin J Tobin,Ciarán Mcardle,Simone C Fagondes,David M Rapoport,Roberto Giugliani,Susan A Ward,Kuo Sheng Lee,Karen A Hardy,Maurizio Scarpa

doi:10.1007/s10545-012-9555-1

Abstract

MPS encompasses a group of rare lysosomal storage disorders that are associated with the accumulation of glycosaminoglycans (GAG) in organs and tissues. This accumulation can lead to the progressive development of a variety of clinical manifestations. Ear, nose, throat (ENT) and respiratory problems are very common in patients with MPS and are often among the first symptoms to appear. Typical features of MPS include upper and lower airway obstruction and restrictive pulmonary disease, which can lead to chronic rhinosinusitis or chronic ear infections, recurrent upper and lower respiratory tract infections, obstructive sleep apnoea, impaired exercise tolerance, and respiratory failure. This review provides a detailed overview of the ENT and respiratory manifestations that can occur in patients with MPS and discusses the issues related to their evaluation and management.Electronic supplementary materialThe online version of this article (doi:10.1007/s10545-012-9555-1) contains supplementary material, which is available to authorized users.

Highlights

MPS encompasses a group of rare lysosomal storage disorders that are associated with the accumulation of glycosaminoglycans (GAG) in organs and tissues
In MPS disorders associated with short stature (e.g., MPS VI), patient height is the primary determinant of vital capacity (VC) and improved pulmonary function during enzyme replacement therapy (ERT) is frequently associated with growth and increased stature (Swiedler et al 2005; Harmatz et al 2010)
obstructive sleep apnoea (OSA) occurs from an interaction between abnormalities of the skull and GAG deposition in the upper airway (UA) and perhaps from remote effects of thoracic deformation causing reduced lung volumes

Summary

Introduction

MPS encompasses a group of rare lysosomal storage disorders that are associated with the accumulation of glycosaminoglycans (GAG) in organs and tissues. This review provides a detailed overview of the ENT and respiratory manifestations that can occur in patients with MPS and discusses the issues related to their evaluation and management. This review addresses ENT and respiratory disorders occurring in MPS, and discusses their evaluation and management.

Results

Conclusion