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. 2020 Jul;29(7):1883-1893.
doi: 10.1007/s11136-020-02465-x. Epub 2020 Mar 11.

Exploring the burden of X-linked hypophosphatemia: a European multi-country qualitative study

S H Lo  1 , R Lachmann  2 , A Williams  3 , N Piglowska  4 , A J Lloyd  4
Affiliations

Exploring the burden of X-linked hypophosphatemia: a European multi-country qualitative study

S H Lo et al. Qual Life Res. 2020 Jul.

Abstract

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.

Keywords: Burden of disease; Fatigue; Metabolic bone disease; Pain; Quality of life; Rare hereditary disease; Stiffness; X-linked hypophosphatemia (XLH).

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Conflict of interest statement

SHL and NP are employees of Acaster Lloyd Consulting Ltd. AJL is an employee and partner at Acaster Lloyd Consulting Ltd. Acaster Lloyd Consulting Ltd. were paid a fixed fee by Kyowa Kirin Services Ltd. to conduct the study and develop the manuscript. RL was paid a consulting fee by Kyowa Kirin Services Ltd. for contributions made to the study and the manuscript. AW is an employee of Kyowa Kirin Services Ltd, Marlow, United Kingdom.

Figures

Fig. 1
Fig. 1
Overview of the XLH patient experience and impact of pain with illustrative quotes
Fig. 2
Fig. 2
Overview of the XLH patient experience and impact of stiffness with illustrative quotes
Fig. 3
Fig. 3
Overview of the XLH patient experience and impact of fatigue with illustrative quotes
Fig. 4
Fig. 4
Model of reported links between pain, stiffness and fatigue symptoms in XLH with illustrative quotes
Fig. 5
Fig. 5
Overview of the psychosocial impact of XLH as a lifelong hereditary condition with illustrative quotes
See this image and copyright information in PMC

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