title: Bilateral femoral head and distal tibial osteonecrosis in a patient with Fabry disease.
abstract: Fabry disease is a lysosomal storage disease caused by alpha-galactosidase A deficiency. The classic presentation of Fabry disease involves multiple organs, including kidneys, heart, skin, eyes, and nervous system. Osteonecrosis is rarely reported in patients with Fabry disease. In this article, we describe the case of a 37-year-old white man who had Fabry disease and no risk factors for osteonecrosis but who developed osteonecrosis in both femoral heads and in an unusual site, bilateral distal tibiae. Results of mutation analysis showed a nonsense mutation (R227X) in the alpha-galactosidase A gene. This case suggests that Fabry disease may be a risk factor for development of osteonecrosis. The enzyme replacement therapy currently available may be an effective method of preventing this complication.
authors.affiliation: Department of Medicine, University of Arizona College of Medicine, Tucson, Arizona 85724, USA. lien@u.arizona.edu
authors.forename: Yeong-Hau H
authors.initials: YH
authors.lastname: Lien
authors.forename: Li-Wen
authors.initials: LW
authors.lastname: Lai
mesh_terms: D000328:Adult; D001774:Blood Chemical Analysis; D000795:Fabry Disease / Q000150:complications* / Q000175:diagnosis*; D005271:Femur Head Necrosis / Q000175:diagnosis / Q000209:etiology; D005500:Follow-Up Studies; D006801:Humans; D007719:Knee Joint; D008279:Magnetic Resonance Imaging; D008297:Male; D010020:Osteonecrosis / Q000175:diagnosis / Q000209:etiology*; D012720:Severity of Illness Index; D000519:alpha-Galactosidase / Q000032:analysis / Q000378:metabolism*
chemical_list: D000519:alpha-Galactosidase