Bone and joint involvement in Fabry disease

摘要: Fabry disease (FD) is an X-linked lysosomal storage caused by deficient activity of the enzyme alpha-galactosidase A. Although has progressive effects on most organ systems in body, data limited regarding skeletal involvement this rare disorder. We describe four family-related patients, three men and one premenopausal female, sharing a classic phenotype FD. Dual-energy X-ray was performed all cases osteoporosis or osteopenia were found patients osteoporotic fractures one. One patient also showed both neuropathic joint osteonecrosis. Several mechanisms that may explain osteoarthropathy setting FD are emphasized.