Osteopenia: a common aspect of Fabry disease. Predictors of bone mineral density

Abstract

Purpose: 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 Ϫ0.05 Ϯ 1.46 SD and Ϫ0.37 Ϯ 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 Ͻ 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 Ͻ 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. Genet Med 2007:9(12):812-818.

Successful salvage therapy with Daptomycin for osteomyelitis caused by methicillin-resistant Staphylococcus aureus in a renal transplant recipient with Fabry-Anderson disease

“…It is now well known that skeletal abnormalities, especially osteopenia with subsequent fractures, may develop following kidney transplantation [12,13], osteomyelitis being one of the complications of fractures [14]. The complex impairment of bone metabolism due to FAD and long lasting hemodialysis in our patient may well have played a role in generating his recalcitrant infection [15]. At our best knowledge, here we report for the first time that Daptomycin in monotherapy at low dose (4 mg/Kg/daily) was safe and efficacious as a third line treatment for MRSA osteomyelitis of the heel in a renal transplant recipient on long-term immune suppression with Cyclosporine and Everolimus.…”

Fabry disease

“…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 (Figure 24) [152,153]. Skeletal involvement has been subsequently confirmed in a larger cohort of 53 patients in which osteopenia was present in approximately 50% of cases [154]. Cases of severe osteoporosis with spontaneous lumbar fractures have recently been described (Figure 25) [155].…”

Assessment of bone mineral density by dual energy x-ray absorptiometry in patients with mucopolysaccharidoses

“…In Gaucher disease, substantial infiltration of Gaucher cells in the bone marrow, osteosclerosis, and osteonecrosis all contribute to the clinical manifestations of bone pain, bone crises, osteopenia, pathologic fractures, and avascular necrosis of the femoral head [22,23]. Similarly, in Fabry disease [24,25], Pompe disease [4], and Niemann-Pick disease type B [5], osteopenia and osteoporosis have been reported as common skeletal manifestations. ERT is an effective treatment for the systemic manifestations of Gaucher disease, and it can have a significant impact on skeletal manifestations [26-28].…”