BACKGROUND Osteogenesis Imperfecta (OI) is characterized by bone fragility, and features such as blue sclerae, dentinogenesis imperfecta, hearing loss, ligamentous laxity and short stature can be present. It has long been assumed that the functional ability and quality of life of patients with OI depends primarily on the severity of skeletal deformities. However, fatigue is often mentioned in clinic by patients with all types of OI as an important modifier of their quality of life and does not always seem to be related to their functional ability. The aim of this study is to investigate whether adults with Osteogenesis Imperfecta are significantly more fatigued than the normal population. METHODS The Fatigue Severity Scale (FSS) was distributed by mobile phone application among 151 adult patients with different OI types. Results of the FSS in the OI group were compared with two control populations from America (n = 20) and the Netherlands (n = 113). RESULTS Ninety-nine patients (OI type 1 (n = 72), OI type 3 (n = 13), OI type 4 (n = 14) completed the FSS questionnaire. The mean FSS score of this cohort was 4.4 and significantly higher than the control populations (2.3/2.9). 65% of our cohort reported at least moderate fatigue compared with 2 control populations from America and the Netherlands. CONCLUSION Fatigue in patients with OI is a frequently encountered problem in our expert clinic but research into this topic is sparse. This pilot study is the largest study to date investigating fatigue in patients with OI and results have been compared with two control groups. The mean FSS score of 4.4 in the OI group indicates that people with OI are generally significantly more fatigued than the control population. Further evaluation of fatigue and its influencers in a larger group of OI patients is important for future management.

中文翻译：

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成骨不全症成人的疲劳。

背景技术成骨不全症（OI）的特征在于骨脆性，并且可以存在诸如蓝巩膜，牙本质不全，听力损失，韧带松弛和身材矮小的特征。长期以来一直认为OI患者的功能能力和生活质量主要取决于骨骼畸形的严重程度。然而，在所有类型的OI患者中，临床常常提到疲劳是其生活质量的重要调节剂，并且似乎并不总是与其功能能力相关。这项研究的目的是调查成骨不全症成年人是否比正常人群疲劳得多。方法通过手机应用程序在151名不同OI类型的成年患者中分配疲劳严重程度量表（FSS）。将OI组的FSS结果与来自美国（n = 20）和荷兰（n = 113）的两个对照人群进行比较。结果完成了FSS问卷调查的有99名患者（OI 1型（n = 72），OI 3型（n = 13），OI 4型（n = 14），该队列的平均FSS评分为4.4，且显着高于对照组（2.3 / 2.9）。与美国和荷兰的2个对照组相比，我们队列中有65％的人至少具有中等程度的疲劳结论结论OI患者的疲劳是我们专家诊所中经常遇到的问题，但是对此主题的研究这项稀疏研究是迄今为止调查OI患者疲劳程度的最大研究，并且已将结果与两个对照组进行了比较，平均FSS评分为4。OI组中的4表示OI患者的疲劳程度通常比对照人群高得多。进一步评估大量OI患者的疲劳及其影响因素对于将来的治疗很重要。