Introduction

X-linked hypophosphatemia (XLH) is a rare, lifelong, progressive disease characterised by renal phosphate wasting and abnormal bone mineralisation. Symptoms begin in early childhood, with the development of rickets and related skeletal deformities and reduced growth, progressing to long-term complications, including pseudofractures and fractures, as well as pain, stiffness and fatigue. The present study was designed to explore the patient experience of pain, stiffness and fatigue and the psychosocial impact of XLH in detail.

Methods

A cross-sectional qualitative study was conducted in the United Kingdom (18), Finland (6), France (4), Germany (1) and Luxembourg (1) with XLH patients aged 26 and over. Interview discussion guides were developed in consultation with clinical experts and patient associations. Data were analysed thematically.

Results

Participants (N = 30) described pain, stiffness and fatigue as frequently experienced symptoms with a significant impact on physical functioning and activities of daily living (ADLs). Some also described the symptoms as impacting their mood/mental health, relationships, social life and leisure activities. Participants described how common symptoms could interact or aggravate other symptoms. Symptoms had often worsened over time, and for many, were associated with concern about the future. Most participants were worried or felt guilty about having children with XLH. The findings confirmed and extended the existing model of the burden of XLH.

Conclusion

The present study is the first to provide an in-depth analysis of pain, stiffness and fatigue, their impact and the interrelatedness of these symptoms among adults with XLH. The study also described the psychosocial impact of XLH as a hereditary, lifelong progressive disease.

中文翻译：

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探索X连锁性低磷血症的负担：一项欧洲多国定性研究。

介绍

X连锁性低磷酸盐血症（XLH）是一种罕见的，终生的，进行性疾病，其特征是肾磷酸盐消耗和异常的骨矿化。症状始于儿童早期，发展为rick病和相关的骨骼畸形，生长减慢，发展为长期并发症，包括假性骨折和骨折，以及疼痛，僵硬和疲劳。本研究旨在详细探讨患者的疼痛，僵硬和疲劳以及XLH的社会心理影响。

方法

在英国（18），芬兰（6），法国（4），德国（1）和卢森堡（1）进行了横断面定性研究，研究对象是26岁及以上的XLH患者。面试讨论指南是在与临床专家和患者协会协商后制定的。对数据进行专题分析。

结果

参与者（N  = 30）将疼痛，僵硬和疲劳描述为经常经历的症状，对身体机能和日常生活活动（ADL）产生重大影响。有些人还认为这些症状会影响他们的情绪/心理健康，人际关系，社交生活和休闲活动。参与者描述了常见症状如何相互作用或加重其他症状。随着时间的流逝，症状通常会恶化，并且对于许多人而言，它们与对未来的担忧有关。大多数参与者对生有XLH的孩子感到担心或内。调查结果证实并扩展了XLH负担的现有模型。

结论

本研究是第一个对XLH成人中的疼痛，僵硬和疲劳，其影响以及这些症状的相互关系进行深入分析的研究。该研究还描述了XLH作为一种遗传性，终身进行性疾病的社会心理影响。