Department of Internal Medicine, University of Iowa, Iowa City, Iowa.
Department of Internal Medicine, University of Iowa, Iowa City, Iowa.
Endocr Pract. 2022 Nov;28(11):1196-1201. doi: 10.1016/j.eprac.2022.07.012. Epub 2022 Aug 8.
In fibrous dysplasia (FD) of the bone, a gain-of-function mutation in the G-nucleotide binding protein alpha subunit results in constitutively active cyclic adenosine monophosphate. Downstream effects include formation of disorganized cortex and bone marrow fibrosis. Patients with FD experience bone pain and are at risk of fracture. Bisphosphonates are traditionally used to manage pain with mixed results. We sought to report denosumab use in patients with FD at our institution and summarized the existing literature on denosumab use in FD.
We retrospectively identified patients with FD who were treated with denosumab at our institution, describing patient characteristics and outcomes. We reviewed the existing literature on denosumab use in patients with FD.
Patient 1 was diagnosed with FD at the age of 17 years and took bisphosphonates with initial improvement in pain. Pain eventually worsened; therefore, she received 4 doses of denosumab. Patient 2 was diagnosed with FD after a fall and was treated with bisphosphonates, reporting some initial improvement in bone pain. A few years later, the pain recurred, and he received 3 doses of denosumab. Both patients tolerated denosumab well but experienced no improvement in pain. On literature review, although some serious side effects were noted, patients experienced a decline in bone turnover markers, and most reported improvement in bone pain with denosumab.
Denosumab is a promising therapy for managing symptoms of FD. Further studies are needed to determine the optimal dose and duration of treatment. Its long-term effect on FD lesions remains unclear.
在骨纤维发育不良(FD)中,G 核苷酸结合蛋白α亚基的功能获得性突变导致环磷酸腺苷持续激活。下游效应包括皮质紊乱和骨髓纤维化的形成。FD 患者会经历骨痛,并有骨折的风险。双膦酸盐传统上用于治疗疼痛,但效果不一。我们旨在报告本机构使用地舒单抗治疗 FD 患者的情况,并总结地舒单抗治疗 FD 的现有文献。
我们回顾性地确定了在本机构接受地舒单抗治疗的 FD 患者,描述了患者的特征和结局。我们复习了地舒单抗治疗 FD 患者的现有文献。
患者 1 在 17 岁时被诊断为 FD,接受双膦酸盐治疗,疼痛最初有所改善。但最终疼痛恶化,因此她接受了 4 剂地舒单抗治疗。患者 2 在跌倒后被诊断为 FD,接受双膦酸盐治疗,报告骨痛有一定程度的初始改善。几年后,疼痛再次出现,他接受了 3 剂地舒单抗治疗。两位患者对地舒单抗均耐受良好,但疼痛均无改善。文献复习显示,虽然有一些严重的副作用,但患者的骨转换标志物下降,大多数患者报告地舒单抗治疗后骨痛改善。
地舒单抗是治疗 FD 症状的一种有前途的治疗方法。需要进一步的研究来确定最佳剂量和治疗持续时间。其对 FD 病变的长期影响尚不清楚。