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

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 exper

SUBMITTER: Lo SH 

PROVIDER: S-EPMC7295835 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature