Skeletal Disorders and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research (NIDCR), National Institutes of Health (NIH), Bethesda, MD, USA.
Tufts University School of Dental Medicine, Boston, MA, USA.
J Bone Miner Res. 2018 Sep;33(9):1641-1648. doi: 10.1002/jbmr.3446. Epub 2018 May 22.
Scoliosis is a complication of fibrous dysplasia/McCune-Albright syndrome (FD/MAS); however, risk factors and long-term outcomes are unknown. Bisphosphonates are commonly used; however, it is unknown whether their use decrease the risk of progressive scoliosis. Clinical data from the National Institutes of Health (NIH) cohort study was reviewed. Cobb angles were measured, and variables associated with scoliosis progression were identified. Of 138 subjects with available radiographs, 84 (61%) had scoliosis, including 55 (65%) classified as mild (Cobb angle >10 to ≤30 degrees), 11 (13%) as moderate (>30 to ≤45 degrees), and 18 (22%) as severe (>45 degrees). Total skeletal disease burden was highly associated with scoliosis severity (p < 0.0001). Endocrinopathies associated with scoliosis included fibroblast growth factor 23 (FGF23)-mediated hypophosphatemia (p < 0.001) and hyperthyroidism (p < 0.001). Bone turnover markers, including osteocalcin and NTX-telopeptides, were associated with severe scoliosis (p < 0.01). Associations were identified between Cobb angle and functional metrics, including leg length discrepancy (p < 0.01), hip range of motion (p < 0.05), and strength of the gluteus medius and maximus (p < 0.01). Longitudinal analyses were conducted in 69 subjects who had serial radiographs over a median 4.9-year period (range, 0.9 to 14.7 years). Twenty-two subjects were treated with bisphosphonates; there was no difference in Cobb angle progression compared to untreated subjects (0.10 versus 0.53 degrees/year, p = 0.36). Longitudinal data was available for 10 of 12 subjects treated with spinal fusion; one had instrumentation failure, but in nine subjects Cobb angles were stable with 6.1 years of follow-up (range, 0.9 to 14.7 years). Two fatalities from scoliosis-associated restrictive lung disease occurred in subjects managed non-operatively. Scoliosis occurs frequently in patients with polyostotic FD, and may be potentially fatal. The primary risk factor for progressive scoliosis is total skeletal disease burden. Treatable features that contribute to scoliosis progression include leg length discrepancy, FGF23-mediated hypophosphatemia, and hyperthyroidism. Current data do not support routine use of bisphosphonates to prevent progression of spinal curvature. Spinal fusion is frequently effective in providing long-term stability, and may be lifesaving. Published 2018. This article is a U.S. Government work and is in the public domain in the USA.
脊柱侧凸是纤维结构不良/麦卡恩-阿尔布赖特综合征（FD/MAS）的并发症；然而，风险因素和长期结果尚不清楚。双膦酸盐通常被使用；然而，其使用是否会降低进展性脊柱侧凸的风险尚不清楚。回顾了美国国立卫生研究院（NIH）队列研究的临床数据。测量 Cobb 角，并确定与脊柱侧凸进展相关的变量。在有可用 X 光片的 138 名受试者中，84 名（61%）患有脊柱侧凸，其中 55 名（65%）为轻度（Cobb 角>10 至≤30 度），11 名（13%）为中度（>30 至≤45 度），18 名（22%）为重度（>45 度）。总骨骼疾病负担与脊柱侧凸严重程度高度相关（p<0.0001）。与脊柱侧凸相关的内分泌疾病包括成纤维细胞生长因子 23（FGF23）介导的低磷血症（p<0.001）和甲状腺功能亢进症（p<0.001）。骨转换标志物，包括骨钙素和 NTX-肽，与严重脊柱侧凸相关（p<0.01）。在 Cobb 角和功能指标之间确定了相关性，包括肢体长度差异（p<0.01）、髋关节活动范围（p<0.05）以及臀中肌和臀大肌的力量（p<0.01）。对 69 名受试者进行了中位 4.9 年（范围为 0.9 至 14.7 年）的连续 X 光片的纵向分析。22 名受试者接受了双膦酸盐治疗；与未治疗的受试者相比，Cobb 角进展无差异（0.10 与 0.53 度/年，p=0.36）。10 名接受脊柱融合治疗的受试者中有 10 名有纵向数据；一名患者发生器械失败，但在 9 名患者中，Cobb 角在 6.1 年的随访中保持稳定（范围为 0.9 至 14.7 年）。两名未经手术治疗的患者因与脊柱侧凸相关的限制性肺病而死亡。多灶性 FD 患者常发生脊柱侧凸，可能危及生命。进展性脊柱侧凸的主要危险因素是总骨骼疾病负担。导致脊柱侧凸进展的可治疗特征包括肢体长度差异、FGF23 介导的低磷血症和甲状腺功能亢进症。目前的数据不支持常规使用双膦酸盐预防脊柱弯曲进展。脊柱融合术通常能有效地提供长期稳定，并可能挽救生命。发表于 2018 年。本文是美国政府的作品，在美国属于公有领域。
