Decreased Bone Mineral Density in Neurofibromatosis-1 Patients with Spinal Deformities

Abstract

A cross-sectional study was carried out to obtain data on the bone mineral density status of a group of neurofibromatosis-1 patients with spinal deformities, and to search for possible accompanying changes in the bone mineral turnover. Neurofibromatosis-1 is a heredofamiliar disorder that is associated with a variety of skeletal anomalies (mostly spinal deformities) in 10-50% of patients. Intraoperatively, a poor vertebral bone quality has been observed. Efforts have been made to identify factors preventing curve progression, to optimize operational planning and to explain the pathomechanism. As part of the preoperative evaluation, dual-energy X-ray absorptiometry was used to assess the bone mineral density of the lumbar spine in 12 patients with neurofibromatosis-1, supplemented by laboratory blood/urine investigations. A significant decrease in bone mineral density of the lumbar spine was measured. An inverse relation was suggested between the severity of scoliosis and the lumbar spine Z-scores. No pivotal alterations were identified in the laboratory measurements. The bony tissue abnormality observed intraoperatively in neurofibromatosis-1 patients may be described as a diminution of the axial bone mineral density. The biochemical parameters do not support the presence of hyperparathyroidism, renal disorders or other associated diseases influencing the bone mineral turnover. The evaluation of bone mineral density in the course of the preoperative planning is proposed in neurofibromatosis-1; the exact background and the role of a possible osteoporosis in the prognosis remain to be elucidated.

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].…”

Ras Dependent Paracrine Secretion of Osteopontin by Nf1+/− Osteoblasts Promote Osteoclast Activation in a Neurofibromatosis Type I Murine Model

“…Although many laboratories have recently identified potential molecular targets for the treatment of the neoplasms associated with NF1, significantly less effort has been focused on understanding the molecular mechanisms underlying the pathogenesis of many of the nonmalignant manifestations of NF1, particularly the skeletal manifestations that cumulatively affect up to 50% of all patients with NF1 (4 -6). Recent clinical studies have found that individuals with NF1 are at significant risk for both generalized and focal skeletal abnormalities, including osteoporosis and osteopenia (7,8).…”

Von Recklinghausen Disease with Palindromic Rheumatism

“…Musculoskeletal abnormalities include short stature, scoliosis, spinal deformities, congenital pseudoarthrosis, and bone dysplasia of the tibia [5,6]. NF1 also causes severe osteoporosis and leads to bone pain and pathological fractures [7].…”