Fabry disease with osteo-articular manifestation: A case report
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Fabry disease (FD) is an X-linked lysosomal storage disorder caused by deficient activity of the enzyme α-galactosidase A. Although the disease has progressive effects on most organ systems in the body, data on skeletal or osteoarticular involvement in this rare disorder are limited. We report a rare case of Fabry disease with osteoarticular presentation, demonstrating osteopenia and neuropathic arthropathy, with affected siblings and a nephew.
Fields of Study & Subjects
Lysosomal Storage Disorders Research
Glycogen Storage Diseases and Myoclonus
Metabolism and Genetic Disorders
Publication details
- Journal / source
- Cahiers Santé Médecine thérapeutique
- Volume
- 35
- Issue
- 1
- Pages
- 68–71
- Publication date
- 1 February 2026
- Language
- FR