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[Osteoarticular manifestations of Gaucher disease in adults: pathophysiology and treatment]

Rose-Marie Javier1, Eric Hachulla

  • 1Service de Rhumatologie, Hôpital de Hautepierre, Avenue Molière, Strasbourg, France. Rose-marie.Javier@chru-strasbourg.fr

Presse Medicale (Paris, France : 1983)
|May 15, 2007
PubMed

Insights

Gaucher disease causes severe bone problems, including pain and fractures. Enzyme replacement and substrate reduction therapies show promise in alleviating bone pain and improving bone density.

Area of Science:

  • Bone Biology and Disease
  • Metabolic Disorders
  • Genetic Disorders

Background:

  • Gaucher disease frequently presents with disabling osteoarticular manifestations.
  • Ischemic phenomena are a major cause of severe, irreversible bone complications.
  • Aseptic osteonecrosis of the hip and bone fragility leading to fractures are significant concerns.

Purpose of the Study:

  • To review the osteoarticular manifestations of Gaucher disease.
  • To evaluate the efficacy of current therapies in managing bone complications.
  • To discuss the role of specific treatments for bone fragility.

Main Methods:

  • Review of literature on Gaucher disease and its bone manifestations.
  • Analysis of data from trials on enzyme replacement therapy (ERT) and substrate reduction therapy (SRT).
  • Consideration of treatment strategies for bone fragility.

Main Results:

  • ERT shows effectiveness in reducing bone pain in treatment-naive patients and improving bone mineral density.
  • Substrate reduction therapy (miglustat) has demonstrated reductions in bone pain and bone marrow infiltration.
  • No double-blind randomized studies specifically assess the bone effects of ERT.

Conclusions:

  • Enzyme replacement therapy and substrate reduction therapy offer benefits for bone pain and density in Gaucher disease.
  • Management of bone fragility requires individualized assessment and consideration of risk factors.
  • Further research, including randomized controlled trials, is needed to fully elucidate the bone effects of therapies.

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