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

Orphanet J Rare Dis. 2011 Nov 7;6:72. doi: 10.1186/1750-1172-6-72.


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.

Publication types

  • Practice Guideline
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Clinical Trials as Topic
  • Disease Management
  • Enzyme Replacement Therapy
  • Female
  • Humans
  • Iduronate Sulfatase / therapeutic use
  • Male
  • Mucopolysaccharidosis II / diagnosis*
  • Mucopolysaccharidosis II / genetics
  • Mucopolysaccharidosis II / pathology
  • Mucopolysaccharidosis II / therapy*
  • Rare Diseases / diagnosis
  • Rare Diseases / drug therapy
  • Rare Diseases / genetics
  • Rare Diseases / pathology
  • Rare Diseases / therapy
  • Treatment Outcome


  • Iduronate Sulfatase