title: Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease.
abstract: 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.
  
  
  CONCLUSIONS
  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.
authors: Department of Pediatrics, University of Padua, Padua, Italy.
authors: Maurizio
authors: M
authors: Scarpa
authors: Zsuzsanna
authors: Z
authors: Almássy
authors: Michael
authors: M
authors: Beck
authors: Olaf
authors: O
authors: Bodamer
authors: Iain A
authors: IA
authors: Bruce
authors: Linda
authors: L
authors: De Meirleir
authors: Nathalie
authors: N
authors: Guffon
authors: Encarna
authors: E
authors: Guillén-Navarro
authors: Pauline
authors: P
authors: Hensman
authors: Simon
authors: S
authors: Jones
authors: Wolfgang
authors: W
authors: Kamin
authors: Christoph
authors: C
authors: Kampmann
authors: Christina
authors: C
authors: Lampe
authors: Christine A
authors: CA
authors: Lavery
authors: Elisa Leão
authors: EL
authors: Teles
authors: Bianca
authors: B
authors: Link
authors: Allan M
authors: AM
authors: Lund
authors: Gunilla
authors: G
authors: Malm
authors: Susanne
authors: S
authors: Pitz
authors: Michael
authors: M
authors: Rothera
authors: Catherine
authors: C
authors: Stewart
authors: Anna
authors: A
authors: Tylki-Szymańska
authors: Ans
authors: A
authors: van der Ploeg
authors: Robert
authors: R
authors: Walker
authors: Jiri
authors: J
authors: Zeman
authors: James E
authors: JE
authors: Wraith
mesh_terms: D000293:Adolescent; D000328:Adult; D002986:Clinical Trials as Topic; D019468:Disease Management; D056947:Enzyme Replacement Therapy; D005260:Female; D006801:Humans; D007066:Iduronate Sulfatase / Q000627:therapeutic use; D008297:Male; D016532:Mucopolysaccharidosis II / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology / Q000628:therapy*; D035583:Rare Diseases / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics / Q000473:pathology / Q000628:therapy; D016896:Treatment Outcome
chemical_list: D007066:Iduronate Sulfatase