Department of Orthopaedic Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States; Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States; The Center for Research in FOP and Related Disorders, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States.
Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States; The Center for Research in FOP and Related Disorders, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States.
Bone. 2018 Apr;109:158-161. doi: 10.1016/j.bone.2017.06.005. Epub 2017 Jun 6.
Fibrodysplasia ossificans progressiva (FOP) is a rare, disabling genetic disorder characterized by episodic soft tissue swelling (flare-ups) that leads to progressive heterotopic ossification and restricted joint mobility.
Here we present the first longitudinal patient-reported mobility assessment (PRMA) in FOP based on a simple evaluation tool. At initial presentation and follow-up (1-11year span; median: 6 year span), 64 patients (36 females; 28 males) with classic FOP completed a questionnaire designed to rapidly assess mobility at 15 sites (three axial; six upper limb, and six lower limb). In order to validate this instrument, twenty-one of 64 patients (33%) underwent a cumulative analogue joint involvement scale (CAJIS) evaluation by two physicians within six months of their second self-assessment.
We found that: 1) mobility changes were episodic and regional, occurring first in the neck and trunk, followed by the upper limbs and finally the lower limbs; 2) interval improvements in mobility did occur, most notably in the lower limbs (18%), and less so in the upper limbs (12%) and trunk (3%), and 3) patient-reported mobility assessments correlate highly (R=0.81) with physician-reported CAJIS evaluations.
This is the first longitudinal PRMA in FOP and provides a simple and valid tool that can be used in the design and evaluation of clinical trials in this progressively disabling disease.
纤维性骨发育不良（FOP）是一种罕见的、使人丧失能力的遗传性疾病，其特征为偶发性软组织肿胀（发作），导致进行性异位骨化和关节活动受限。
在这里，我们提出了第一个基于简单评估工具的 FOP 患者报告的流动性评估（PRMA）的纵向研究。在初次就诊和随访（1-11 年，中位数：6 年）中，64 例经典 FOP 患者（36 名女性；28 名男性）完成了一项问卷，旨在快速评估 15 个部位的流动性（三个轴向，六个上肢，六个下肢）。为了验证该仪器，在 64 例患者中的 21 例（33%）在第二次自我评估后六个月内，由两位医生进行累积模拟关节受累评分（CAJIS）评估。
我们发现：1）流动性变化呈间歇性和区域性，首先发生在颈部和躯干，然后是上肢，最后是下肢；2）流动性的间隔改善确实发生了，尤其是在下肢（18%），而上肢（12%）和躯干（3%）较少；3）患者报告的流动性评估与医生报告的 CAJIS 评估高度相关（R=0.81）。
这是第一个 FOP 的纵向 PRMA，并提供了一种简单有效的工具，可以用于该进行性致残疾病的临床试验设计和评估。
