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[Bone changes in Gaucher disease].

M Butora1, R Kissling, P Frick

  • 1Orthopädische Universitätsklinik Balgrist, Zürich.

Zeitschrift Fur Rheumatologie
|November 1, 1989
PubMed
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Gaucher disease, a genetic defect in sphingolipid metabolism, frequently affects Ashkenazi-Jews, causing bone and joint issues. Treatment for these orthopedic complications is primarily symptomatic.

Area of Science:

  • Genetics
  • Metabolic Disorders
  • Rheumatology

Background:

  • Gaucher disease is an autosomal-recessive genetic disorder affecting sphingolipid metabolism.
  • It is more prevalent in the Ashkenazi-Jewish population due to a deficiency in glucocerebrosidase.
  • This deficiency leads to glucocerebroside accumulation in the reticuloendothelial system, primarily impacting the spleen, liver, and bone marrow.

Observation:

  • The chronic adult form (type 1) presents with hematologic complications and splenomegaly.
  • A significant, though less recognized, skeletal involvement occurs, leading to diverse rheumatologic and orthopedic problems.
  • Observed bone lesions include pain, osteomyelitis, aseptic necrosis, fractures, kyphosis, deformities, and arthritis.

Findings:

  • Pathogenic mechanisms for bone lesions are multifactorial, involving cellular toxicity, impaired bone cell function, vascular compression, and bone infarction.

Related Experiment Videos

  • Therapeutic approaches for orthopedic manifestations are predominantly symptomatic and conservative.
  • The impact of splenectomy on bone involvement remains debated.

    • Implications:

    • Understanding the skeletal manifestations of Gaucher disease is crucial for comprehensive patient management.
    • Further research into pathogenic mechanisms may reveal targeted therapeutic strategies.
    • Early recognition and management of orthopedic issues can improve patient outcomes and quality of life.