Review
Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease
1 Department of Pediatrics, University of Padua, Padua, Italy
2 Department of Pediatrics, Heim Pál Hospital for Sick Children, Budapest, Hungary
3 University Medical Center, Johannes Gutenberg University, Mainz, Germany
4 Department of Human Genetics, Miller School of Medicine, Miami, FL, USA
5 Department of Paediatric Otorhinolaryngology, Royal Manchester Children's Hospital, Manchester, UK
6 Department of Pediatric Neurology and Metabolic Diseases, UZ Brussel, Brussels, Belgium
7 Reference Centre of Metabolic Diseases, HFME Hospital, Lyon, France
8 Medical Genetics Unit, Department of Pediatrics, University Hospital Virgen de la Arrixaca, El Palmar, Murcia, Spain
9 Therapy and Dietetics Department, Royal Manchester Children's Hospital, Manchester, UK
10 Manchester Academic Health Science Centre, University of Manchester, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK
11 Department of Pediatrics, Children's Hospital and Johannes Gutenberg University, Mainz, Germany
12 Klinik für Kinder- und Jugendmedizin am Evangelischen Krankenhaus Hamm, Hamm, Germany
13 Division of Cardiology and Division of Lysosomal Storage Diseases, University Children's Hospital, Mainz, Germany
14 Children's Hospital, University Medical Center, Johannes Gutenberg University, Mainz, Germany
15 Society for Mucopolysaccharide Diseases, Amersham, UK
16 Unidade Doenças Metabólicas, Serviço de Pediatria, Hospital de S. João, Porto, Portugal
17 Division of Metabolism, Connective Tissue Unit, University Children's Hospital, Zurich, Switzerland
18 Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Denmark
19 Department of Pediatrics, Karolinska Institute, Stockholm, Sweden
20 Department of Ophthalmology, University Medical Center, Johannes Gutenberg University, Mainz, Germany
21 Birmingham Children's Hospital, Birmingham, UK
22 The Children's Memorial Health Institute, Clinic of Metabolic Diseases, Warsaw, Poland
23 Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, University Hospital, Rotterdam, The Netherlands
24 Royal Manchester Children's Hospital, Manchester, UK
25 Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic
Orphanet Journal of Rare Diseases 2011, 6:72 doi:10.1186/1750-1172-6-72
Published: 7 November 2011Abstract
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.
Take-home message
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.
