Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease

Orphanet Journal of Rare Diseases. 2011;6(1):72 DOI 10.1186/1750-1172-6-72

 

Journal Homepage

Journal Title: Orphanet Journal of Rare Diseases

ISSN: 1750-1172 (Online)

Publisher: BMC

Society/Institution: Orphanet

LCC Subject Category: Medicine

Country of publisher: United Kingdom

Language of fulltext: English

Full-text formats available: PDF, HTML

 

AUTHORS

Scarpa Maurizio
Almássy Zsuzsanna
Beck Michael
Bodamer Olaf
Bruce Iain A
De Meirleir Linda
Guffon Nathalie
Guillén-Navarro Encarna
Hensman Pauline
Jones Simon
Kamin Wolfgang
Kampmann Christoph
Lampe Christina
Lavery Christine A
Leão Teles Elisa
Link Bianca
Lund Allan M
Malm Gunilla
Pitz Susanne
Rothera Michael
Stewart Catherine
Tylki-Szymańska Anna
van der Ploeg Ans
Walker Robert
Zeman Jiri
Wraith James E

EDITORIAL INFORMATION

Blind peer review

Editorial Board

Instructions for authors

Time From Submission to Publication: 16 weeks

 

Abstract | Full Text

<p>Abstract</p> <p/> <p>Mucopolysaccharidosis type II (MPS II) is a rare, life-limiting, X-linked recessive disease characterised by deficiency of the lysosomal enzyme iduronate-2-sulfatase. Consequent accumulation of glycosaminoglycans leads to pathological changes in multiple body systems. Age at onset, signs and symptoms, and disease progression are heterogeneous, and patients may present with many different manifestations to a wide range of specialists. Expertise in diagnosing and managing MPS II varies widely between countries, and substantial delays between disease onset and diagnosis can occur. In recent years, disease-specific treatments such as enzyme replacement therapy and stem cell transplantation have helped to address the underlying enzyme deficiency in patients with MPS II. However, the multisystem nature of this disorder and the irreversibility of some manifestations mean that most patients require substantial medical support from many different specialists, even if they are receiving treatment. This article presents an overview of how to recognise, diagnose, and care for patients with MPS II. Particular focus is given to the multidisciplinary nature of patient management, which requires input from paediatricians, specialist nurses, otorhinolaryngologists, orthopaedic surgeons, ophthalmologists, cardiologists, pneumologists, anaesthesiologists, neurologists, physiotherapists, occupational therapists, speech therapists, psychologists, social workers, homecare companies and patient societies.</p> <p>Take-home message</p> <p>Expertise in recognising and treating patients with MPS II varies widely between countries. This article presents pan-European recommendations for the diagnosis and management of this life-limiting disease.</p>