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Gaucher Disease in Bone: From Pathophysiology to Practice.

Derralynn Hughes1, Peter Mikosch2, Nadia Belmatoug3

  • 1Royal Free London NHS Foundation Trust and University College London, UK.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|June 25, 2019
PubMed
Summary

Gaucher disease (GD) significantly impacts bone health, causing pain and disability. This review provides updated recommendations for evaluating and managing skeletal issues in GD patients to improve outcomes.

Keywords:
BIOMARKERSBONE DISEASEGAUCHER DISEASEOSTEONECROSISOSTEOPOROSISRADIOLOGYTHERAPEUTICS

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Area of Science:

  • Medical Genetics
  • Orthopedics
  • Endocrinology

Background:

  • Gaucher disease (GD) is a rare genetic lysosomal storage disorder.
  • Skeletal involvement is a primary cause of morbidity in GD, leading to pain and disability.
  • Current management guidelines for skeletal manifestations require updating.

Purpose of the Study:

  • To develop practical clinical recommendations for the evaluation and management of skeletal features in Gaucher disease.
  • To review 20 years of literature on GD's skeletal manifestations.
  • To identify best practices and unmet needs in managing GD-related bone disease.

Main Methods:

  • Comprehensive literature review of studies published over the last 20 years.
  • Defining pathophysiological terms related to skeletal involvement in GD.
  • International expert consensus on clinical recommendations.

Main Results:

  • GD causes bone abnormalities including reduced density, infarction, and fractures due to lipid accumulation and altered bone cell activity.
  • MRI is valuable for assessing marrow infiltration and bone infarction; DXA is recommended for bone mineral density in adults.
  • Early initiation of GD-specific therapy is crucial for preventing irreversible skeletal damage.

Conclusions:

  • Regular skeletal assessment, including bone density and marrow evaluation, is recommended for GD patients.
  • Management should focus on bone health optimization, pain management, and prompt GD therapy.
  • Further research is needed for better methods to assess bone integrity and fracture risk in GD.