Department of Medicine, Mayo Clinic School of Medicine, Mayo Clinic, Rochester, MN, United States.
Department of Public Health Sciences, School of Medicine, Department of Biomedical Engineering, University of California, Davis, CA, United States.
Bone. 2018 Apr;109:124-133. doi: 10.1016/j.bone.2017.06.009. Epub 2017 Jun 13.
Fibrodysplasia ossificans progressiva (FOP) causes progressive disability due to heterotopic ossification from episodic flare-ups. Using data from 500 FOP patients (representing 63% of all known patients world-wide), age- and joint-specific risks of new joint involvement were estimated using parametric and nonparametric statistical methods.
Compared to data from a 1994 survey of 44 individuals with FOP, our current estimates of age- and joint-specific risks of new joint involvement are more accurate (narrower confidence limits), based on a wider range of ages, and have less bias due to its greater comprehensiveness (captures over three-fifths of the known FOP patients worldwide). For the neck, chest, abdomen, and upper back, the estimated hazard decreases over time. For the jaw, lower back, shoulder, elbow, wrist, fingers, hip, knee, ankle, and foot, the estimated hazard increases initially then either plateaus or decreases. At any given time and for any anatomic site, the data indicate which joints are at risk.
This study of approximately 63% of the world's known population of FOP patients provides a refined estimate of risk for new involvement at any joint at any age, as well as the proportion of patients with uninvolved joints at any age. Importantly, these joint-specific survival curves can be used to facilitate clinical trial design and to determine if potential treatments can modify the predicted trajectory of progressive joint dysfunction.
纤维性骨发育不良(FOP)会因发作性炎症导致异位骨化而逐渐丧失活动能力。利用 500 例 FOP 患者(占全球已知 FOP 患者的 63%)的数据,采用参数和非参数统计方法估计了新关节受累的年龄和关节特异性风险。
与 1994 年对 44 例 FOP 患者的调查数据相比,我们目前对新关节受累的年龄和关节特异性风险的估计更为准确(置信区间较窄),因为纳入了更广泛的年龄范围,并且由于涵盖范围更广(包括全球已知的五分之三以上的 FOP 患者),因此偏差更小。对于颈部、胸部、腹部和上背部,估计的危险随时间降低。对于下颌、下背部、肩部、肘部、腕部、手指、臀部、膝盖、脚踝和足部,估计的危险最初增加,然后要么稳定下来,要么降低。在任何特定时间和任何解剖部位,数据都表明哪些关节存在风险。
这项对全球约 63%的已知 FOP 患者的研究提供了对任何年龄任何关节新受累风险的精确估计,以及任何年龄未受累关节的患者比例。重要的是,这些关节特异性生存曲线可用于辅助临床试验设计,并确定潜在治疗方法是否可以改变进行性关节功能障碍的预测轨迹。