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Bone and joint involvement in Fabry disease

K Sacre1, Olivier Lidove, B Giroux Leprieur

  • 1Department of Internal Medicine, Bichat-Claude Bernard Hospital, APHP, University Paris-7, Paris Cedex 18, France.

Scandinavian Journal of Rheumatology
|December 17, 2009
PubMed

Insights

Fabry disease (FD), a genetic disorder, often leads to bone density loss (osteoporosis) and joint issues in affected individuals. This study highlights skeletal complications in four family members with classic FD, emphasizing the need for further research.

Area of Science:

  • Genetics
  • Metabolic Disorders
  • Skeletal Biology

Background:

  • Fabry disease (FD) is an X-linked lysosomal storage disorder resulting from deficient alpha-galactosidase A activity.
  • While FD affects multiple organ systems, its impact on skeletal health remains under-documented.
  • Understanding the full spectrum of FD manifestations is crucial for comprehensive patient care.

Observation:

  • Four related patients (3 males, 1 premenopausal female) with classic FD phenotype were studied.
  • All patients exhibited osteoporosis or osteopenia via dual-energy X-ray absorptiometry.
  • One patient presented with neuropathic joint disease and osteonecrosis.

Findings:

  • Skeletal involvement, including osteoporosis and osteopenia, is prevalent in individuals with Fabry disease.
  • The study identified osteoporotic fractures and advanced joint complications in FD patients.
  • Specific mechanisms contributing to bone and joint pathology in FD were explored.

Implications:

  • These findings underscore the significance of skeletal health monitoring in Fabry disease management.
  • Further research into the pathogenesis of skeletal complications in FD is warranted.
  • Integrating skeletal assessments may improve the holistic care of patients with Fabry disease.

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