Osteopenia: a common aspect of Fabry disease. Predictors of bone mineral density.
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.
Mersebach
Henriette
H
Department of Medical Endocrinology, Copenhagen University Hospital, Copenhagen, Denmark.
Johansson
Jan-Ove
JO
Rasmussen
Ase Krogh
AK
Bengtsson
Bengt-Ake
BA
Rosenberg
Kirsten
K
Hasholt
Lis
L
Sørensen
Sven Asger
SA
Sørensen
Søren Schwartz
SS
Feldt-Rasmussen
Ulla
U
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
D015415:Biomarkers