Bone involvement in Fabry disease

Fabry disease (FD) is an X-linked inborn error of metabolism resulting from the deficiency of the lysosomal hydrolase, a-galactosidase A. The enzymatic defect leads to the widespread deposition of glycosphingolipids in the plasma and lysosomes of various cell types resulting in cellular, tissue, and organ dysfunction. While the classic form of FD is known to be a multi-system disorder, no data are available regarding involvement of bones. In this study, bone mineral density of the lumbar spine and the femoral neck was assessed by dual-energy X-ray absorptiometry (DEXA) in 23 hemizygous male patients with a mean age of 31 years (16-60 years) affected with classic FD. Using the World Health Organization classification, 20 of the 23 patients (88 %) with FD had either osteopenia (n = 11) or osteoporosis (n = 9) at one or both sites.