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Miscellaneous non-inflammatory musculoskeletal conditions. Gaucher disease and bone

P Mikosch1

  • 11st Medical Department, Hanusch Hospital, Vienna, Austria. peter.mikosch@tele2.at

Best Practice & Research. Clinical Rheumatology
|December 7, 2011
PubMed

Insights

Gaucher disease (GD) causes bone problems like pain and fractures. Current treatments, including enzyme replacement and substrate reduction therapy, improve bone health and reduce symptoms in patients with this genetic disorder.

Area of Science:

  • Genetics and Genetic Diseases
  • Metabolic Diseases
  • Hematology

Background:

  • Gaucher disease (GD) is an inherited lysosomal storage disorder impacting multiple organs.
  • Non-neuronopathic GD, the most common type, presents with various symptoms including hepatosplenomegaly, anemia, and skeletal issues.
  • Bone manifestations in GD are significant, encompassing infarcts, avascular necrosis, osteosclerosis, fractures, and osteomyelitis, severely affecting patient morbidity.

Purpose of the Study:

  • To provide a comprehensive overview of bone pathologies in Gaucher disease.
  • To discuss the pathophysiology, diagnostics, and clinical management of GD bone manifestations.
  • To evaluate the therapeutic effects of enzyme replacement therapy (ERT), substrate reduction therapy (SRT), and bone-specific treatments on GD bone disease.

Main Methods:

  • Review of existing literature on Gaucher disease bone pathology.
  • Analysis of clinical data regarding diagnostic approaches.
  • Assessment of therapeutic outcomes from ERT, SRT, and other relevant treatments.

Main Results:

  • Available therapies like ERT and SRT rapidly improve hematological and visceral symptoms in GD.
  • These therapies also demonstrate beneficial effects on bone pain, bone crises, and osteoporosis progression.
  • The article details the pathophysiology and diagnostic criteria for GD bone complications.

Conclusions:

  • Gaucher disease significantly impacts bone health, leading to pain, fractures, and reduced quality of life.
  • Enzyme replacement therapy and substrate reduction therapy offer significant benefits for bone manifestations in GD.
  • Further focus on bone-specific therapies alongside current treatments is crucial for comprehensive GD management.

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