Jalilova Arzu, Cocca Alessandra
Department of Pediatric Endocrinology, Acıbadem İzmir Kent Hospital, İzmir, Türkiye.
Department of Pediatric Endocrinology, Evelina London Children's Hospital, London, UK.
J Bone Metab. 2025 Feb;32(1):1-10. doi: 10.11005/jbm.24.809. Epub 2025 Feb 28.
This review aims to synthesize current knowledge regarding the use of bisphosphonates (BPs) in the treatment of bone complications in patients with neurofibromatosis type 1 (NF1). NF1 is a genetic disorder marked by multiple benign tumors of the nervous system and various skeletal abnormalities, such as osteoporosis and an increased risk of fractures. BPs are drugs that inhibit bone resorption, commonly used to treat osteoporosis and other bone diseases. The review identified multiple studies examining the effects of BP therapy in NF1 patients. Most studies reported improvements in bone mineral density and reduced fracture occurrence. The most commonly reported side effects were mild gastrointestinal symptoms and transient musculoskeletal pain. However, the evidence is limited by the small number of studies and the heterogeneity of patient populations and treatment protocols. In conclusion, BPs show improvements in managing NF1 complications such as osteoporosis and a reduction of fracture risk in NF1 patients. While the existing studies suggest positive outcomes, there is a need for more rigorous, large-scale studies to establish standardized treatment protocols and long-term safety profiles. Healthcare providers should consider BP therapy as a potential option for NF1 patients with significant bone complications, while also monitoring for possible adverse effects.
本综述旨在综合目前有关双膦酸盐(BPs)用于治疗1型神经纤维瘤病(NF1)患者骨并发症的知识。NF1是一种遗传性疾病,其特征为神经系统的多个良性肿瘤以及各种骨骼异常,如骨质疏松症和骨折风险增加。双膦酸盐是抑制骨吸收的药物,常用于治疗骨质疏松症和其他骨病。该综述确定了多项研究双膦酸盐治疗对NF1患者影响的研究。大多数研究报告称骨密度有所改善,骨折发生率降低。最常报告的副作用是轻度胃肠道症状和短暂的肌肉骨骼疼痛。然而,证据受到研究数量少、患者群体和治疗方案的异质性的限制。总之,双膦酸盐在管理NF1并发症(如骨质疏松症)方面显示出改善,并且降低了NF1患者的骨折风险。虽然现有研究表明有积极结果,但需要更严格的大规模研究来建立标准化治疗方案和长期安全性概况。医疗保健提供者应将双膦酸盐治疗视为患有严重骨并发症的NF1患者的一种潜在选择,同时也要监测可能的不良反应。