title: Osteopenia: a common aspect of Fabry disease. Predictors of bone mineral density.
abstract: OBJECTIVE
  We investigated the bone mineral status in patients with untreated Fabry disease (FD).
  
  
  METHODS
  Descriptive, cross-sectional study in 53 patients with FD investigating bone mineral density (BMD)/content (dual energy x-ray absorptiometry scan), bone metabolism (parathyroid hormone, osteocalcin, and insulin-like growth factor I), and renal function (ethylene diamine tetraacetic acid clearance).
  
  
  RESULTS
  Mean BMD z score at the lumbar spine and femoral neck were -0.05 +/- 1.46 SD and -0.37 +/- 1.02 SD, respectively. Approximately 50% had osteopenia in the hip or lumbar spine and additionally four had osteoporosis. Multivariate analysis including body weight, impaired renal function, and genotype overall explained 48% of the variance in lumbar spine BMD (P < 0.001), whereas body weight, impaired renal function, and menopausal status in the female population accounted for more than 50% of the variation in BMD of both the lumbar spine and femoral neck (both P < 0.001). Twenty percent of patients had hyperparathyroidism. Although the level of parathyroid hormone was significantly associated with impaired renal function, osteocalcin levels were significantly higher in patients with lumbar spine osteopenia or osteoporosis than in those with normal BMD.
  
  
  CONCLUSIONS
  Osteopenia was present in approximately 50% of patients with untreated FD. Whether BMD and bone metabolism will improve after enzyme replacement therapy remains to be established.
authors: Department of Medical Endocrinology, Copenhagen University Hospital, Copenhagen, Denmark.
authors: Henriette
authors: H
authors: Mersebach
authors: Jan-Ove
authors: JO
authors: Johansson
authors: Ase Krogh
authors: AK
authors: Rasmussen
authors: Bengt-Ake
authors: BA
authors: Bengtsson
authors: Kirsten
authors: K
authors: Rosenberg
authors: Lis
authors: L
authors: Hasholt
authors: Sven Asger
authors: SA
authors: Sørensen
authors: Søren Schwartz
authors: SS
authors: Sørensen
authors: Ulla
authors: U
authors: Feldt-Rasmussen
mesh_terms: D000293:Adolescent; D000328:Adult; D015415:Biomarkers / Q000097:blood / Q000652:urine; D015992:Body Mass Index; D015519:Bone Density; D001851:Bone Diseases, Metabolic / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000209:etiology; D015331:Cohort Studies; D003430:Cross-Sectional Studies; D000795:Fabry Disease / Q000150:complications*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D011859:Radiography
chemical_list: D015415:Biomarkers