Musculoskeletal manifestations of lysosomal storage disorders

M Aldenhoven, R J B Sakkers, J Boelens, T J de Koning, N M Wulffraat

Research output: Contribution to journalReview articlepeer-review

88 Citations (Scopus)


Lysosomal storage disorders (LSDs), a heterogeneous group of inborn metabolic disorders, are far more common than most doctors presume. Although patients with a severe LSD subtype are often readily diagnosed, the more attenuated subtypes are frequently missed or diagnosis is significantly delayed. The presenting manifestations often involve the bones and/or joints and therefore these patients are frequently under specialist care by (paediatric) rheumatologists, receiving inadequate treatment. Since effective disease-specific treatments, including enzyme replacement therapy and stem cell transplantation, have become available for certain LSDs and timely initiation of these treatments is necessary to prevent the development of severe, disabling and irreversible manifestations, early diagnosis has become essential. The challenge is to raise awareness for better recognition of the presenting signs and symptoms of LSDs by all doctors who may encounter these patients, including rheumatologists.

Original languageEnglish
Pages (from-to)1659-65
Number of pages7
JournalAnnals of the Rheumatic Diseases
Issue number11
Publication statusPublished - Nov-2009
Externally publishedYes


  • Diagnosis, Differential
  • Humans
  • Lysosomal Storage Diseases
  • Mucopolysaccharidoses
  • Musculoskeletal Diseases
  • Sphingolipidoses
  • Journal Article
  • Research Support, Non-U.S. Gov't
  • Review


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