title: Bone and joint involvement in Fabry disease.
abstract: Fabry disease (FD) is an X-linked lysosomal storage disease caused by deficient activity of the enzyme alpha-galactosidase A. Although the disease has progressive effects on most organ systems in the body, data is limited regarding skeletal involvement in this rare disorder. We describe four family-related patients, three men and one premenopausal female, sharing a classic phenotype of FD. Dual-energy X-ray was performed in all cases and osteoporosis or osteopenia were found in all patients and osteoporotic fractures in one. One patient also showed both neuropathic joint disease and osteonecrosis. Several mechanisms that may explain osteoporosis and osteoarthropathy in the setting of FD are emphasized.
authors.affiliation: Department of Internal Medicine, Bichat-Claude Bernard Hospital, APHP, University Paris-7, Paris Cedex 18, France.
authors.forename: K
authors.initials: K
authors.lastname: Sacre
authors.forename: Olivier
authors.initials: O
authors.lastname: Lidove
authors.forename: B
authors.initials: B
authors.lastname: Giroux Leprieur
authors.forename: N
authors.initials: N
authors.lastname: Ouali
authors.forename: J
authors.initials: J
authors.lastname: Laganier
authors.forename: C
authors.initials: C
authors.lastname: Caillaud
authors.forename: T
authors.initials: T
authors.lastname: Papo
mesh_terms: D015502:Absorptiometry, Photon; D000328:Adult; D001851:Bone Diseases, Metabolic / Q000150:complications* / Q000235:genetics / Q000628:therapy; D018450:Disease Progression; D000795:Fabry Disease / Q000150:complications* / Q000235:genetics / Q000628:therapy; D005260:Female; D050723:Fractures, Bone / Q000150:complications / Q000235:genetics / Q000628:therapy; D006801:Humans; D007676:Kidney Failure, Chronic / Q000150:complications / Q000235:genetics; D008297:Male; D008875:Middle Aged; D010024:Osteoporosis / Q000150:complications* / Q000235:genetics / Q000628:therapy; D010375:Pedigree; D012720:Severity of Illness Index; D035781:Siblings; D016896:Treatment Outcome