Hart Elizabeth S, Kelly Marilyn H, Brillante Beth, Chen Clara C, Ziran Navid, Lee Janice S, Feuillan Penelope, Leet Arabella I, Kushner Harvey, Robey Pamela G, Collins Michael T
Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institute of Health, Bethesda, Maryland 20892-4320, USA.
J Bone Miner Res. 2007 Sep;22(9):1468-74. doi: 10.1359/jbmr.070511.
Most lesions in FD and their attendant functional disability occur within the first decade; 90% of lesions are present by 15 years, and the median age when assistive devices are needed is 7 years. These findings have implications for prognosis and determining the timing and type of therapy.
Fibrous dysplasia of bone (FD) is an uncommon skeletal disorder in which normal bone is replaced by abnormal fibro-osseous tissue. Variable amounts of skeletal involvement and disability occur. The age at which lesions are established, the pace at which the disease progresses, if (or when) the disease plateaus, and how these parameters relate to the onset of disability are unknown. To answer these questions, we performed a retrospective analysis of a group of subjects with FD.
One hundred nine subjects with a spectrum of FD were studied for up to 32 years. Disease progression was assessed in serial (99)Tc-MDP bone scans by determining the location and extent of FD lesions using a validated bone scan scoring tool. Physical function and the need for ambulatory aids were assessed.
Ninety percent of the total body disease skeletal burden was established by age 15. Disease was established in a region-specific pattern; in the craniofacial region, 90% of the lesions were present by 3.4 yr, in the extremities, 90% were present by 13.7 yr, and in the axial skeleton, 90% were present by 15.5 yr. Twenty-five of 103 subjects eventually needed ambulatory aids. The median age at which assistance was needed was 7 yr (range, 1-43 yr). The median bone scan score for subjects needing assistance was 64.3 (range, 18.6-75) compared with 23.1 (range, 0.5-63.5) in the unassisted subjects (p < 0.0001). Among subjects needing assistance with ambulation, 92% showed this need by 17 yr.
The majority of skeletal lesions and the associated functional disability occur within the first decade of life. The implication is that the window of time for preventative therapies is narrow. Likewise, therapeutic interventions must be tailored to where the patient is in the natural history of the disease (i.e., progressive disease [young] versus established disease [older subjects]). These findings have implications for prognosis, the timing and type of therapy, and the development of trials of new therapies and their interpretation.
纤维结构不良（FD）中的大多数病变及其伴随的功能障碍发生在生命的第一个十年内；90%的病变在15岁时出现，需要辅助装置的中位年龄为7岁。这些发现对预后以及确定治疗的时机和类型具有重要意义。
骨纤维结构不良（FD）是一种罕见的骨骼疾病，其中正常骨被异常的纤维骨组织所取代。骨骼受累程度和功能障碍各不相同。病变形成的年龄、疾病进展的速度、疾病是否（或何时）达到平台期以及这些参数与功能障碍的发生有何关系尚不清楚。为了回答这些问题，我们对一组FD患者进行了回顾性分析。
对109例不同类型FD患者进行了长达32年的研究。通过使用经过验证的骨扫描评分工具确定FD病变的位置和范围，在连续的（99）Tc-MDP骨扫描中评估疾病进展。评估身体功能和对步行辅助工具的需求。
90%的全身疾病骨骼负担在15岁时确立。疾病以区域特异性模式确立；在颅面部区域，90%的病变在3.4岁时出现，在四肢，90%在13.7岁时出现，在中轴骨骼，90%在15.5岁时出现。103例患者中有25例最终需要步行辅助工具。需要辅助的中位年龄为7岁（范围1 - 43岁）。需要辅助的患者的中位骨扫描评分为64.3（范围18.6 - 75），而无需辅助的患者为23.1（范围0.5 - 63.5）（p < 0.0001）。在需要步行辅助的患者中（92%）在17岁时就出现了这种需求。
大多数骨骼病变及相关功能障碍发生在生命的第一个十年内。这意味着预防性治疗的时间窗口很窄。同样，治疗干预必须根据患者在疾病自然史中的阶段进行调整（即进展期疾病[年轻患者]与已确立疾病[老年患者]）。这些发现对预后、治疗的时机和类型以及新疗法试验的开展及其解读具有重要意义。
