Bone metabolism markers and bone mineral density in children with neurofibromatosis type-1

Bone health and fracture rate in individuals with neurofibromatosis 1 (NF1)

“…Our observation of BMD T scores consistent with osteopenia in 49% of our NF1 patients and with osteoporosis in 19% is similar to that of other investigations that also found decreased BMD in people with NF1 4 – 8 15 20. However, the predominance of males with BMD values in the osteoporosis range was unexpected.…”

Skeletal abnormalities in neurofibromatosis type 1: Approaches to therapeutic options

“…Decreased BMD in both sexes at an early age has been reported in up to 50% of individuals with NF1 [Illes et al, 2001;Kuorilehto et al, 2004b;Lammert et al, 2005;Dulai et al, 2007;Stevenson et al, 2007;Yilmaz et al, 2007;Brunetti-Pierri et al, 2008;Duman et al, 2008]. This may be related to an inadequate increase in bone remodeling observed by both bone histomorphometry and changes in circulating bone markers [Stevenson et al, 2008;Seitz et al, 2009].…”

The Skeleton Abnormalities in Patients with Neurofibromatosis Type 1: Important Consequences of Abnormal Gene Function

“…Reduced blood concentration of osteocalcin in Nf-1 patients with skeletal deformity may indicate defect in osteoblasts functioning. Other biochemical markers of bone turnover usually do not exhibit any difference between these groups (Duman et al, 2008). When compared to healthy subjects, in Nf-1 patients BMD of the lumbar spine and femoral neck is significantly decreased.…”

“…The decrease in BMD is still more pronounced in Nf-1 patients with severe scoliosis, than those without spinal deformities. Duman et al (2008) suggests that relevant predictors of skeletal abnormalities among Nf-1 patients are bone formation markers (exclusively osteocalcin) rather than imaging (conventional radiography, CT, MRI or quantitative ultrasonometry of the calcaneal bone) and densitometry techniques, especially dual-energy X-ray absorptiometry (DXA). In opposite to this report, the other published data suggest that both DXA and quantitative ultrasonometry of the calcaneal or other bones may prove useful to identify individuals with NF1 who are at risk for clinical osseous complications.…”