Patient-Reported Complications, Symptoms, and Experiences of Living With X-Linked Hypophosphatemia Across the Life-Course

Abstract

Background X-linked hypophosphatemia (XLH) is a rare, genetic phosphate-wasting disease resulting in bone, muscular and dental problems, beginning in childhood and increasing in adulthood. This qualitative analysis aimed to explore patient-reported symptoms, complications and experiences of XLH over the life-course, using data from a large multinational online survey. Methods Responses to two open-ended questions from 209 adults and 86 children/adolescents (proxy report) with self-reported XLH were analyzed in eight age groups. Two researchers independently coded and analyzed the responses, using thematic analysis, with differences settled among a multi-disciplinary group. Six themes were identified, with age sub-group analysis conducted on the three most common, according to coding frequency. Results Within theme 1, ‘Clinical Signs and Symptoms of XLH’, ‘Pain’ was a dominant sub-theme across the life-course, but ‘Skeletal Pathology’ dominated the responses of children/adolescents. Within theme 2, ‘Impacts of Clinical Signs and Symptoms’, interference with ‘Physical Exertion’ and ‘Emotional Wellbeing’ (comprising depression/anxiety in adults and lack of self-esteem in children/adolescents) was reported across all ages. For theme 3, ‘Negative Treatment Experiences’, ‘Medication’ was problematic for children, with adults reporting lack of ‘Access to Appropriate Treatment’. Three further themes were identified: ‘Resilience’, ‘Positive Treatment Experiences’, and ‘Information Needs.’ Conclusion The multiple burdens imposed on people with XLH throughout their lifetime encompassed the physical, emotional and social, although the most challenging symptoms or complications differed between ages. Burden was further exacerbated by adult’s lack of access to appropriate treatment, illustrating the need for age-appropriate multidisciplinary care.

Health-related quality of life of X-linked hypophosphatemia in Spain

“…Moreover, in a recent meta-analysis of the health impact of rare diseases, the lowest quality of life across EQ-5D scores, VAS scores and Barthel index corresponded to patients with musculoskeletal diseases [27]. Nonetheless, it should be noted that EQ-5D has also been recognized as being inaccurate for measuring quality of life and in particular for rare diseases [28][29][30].…”

Clinical practice guidelines for paediatric X‐linked hypophosphataemia in the era of burosumab

“…24,25 Qualitative research has found that the lives of those with XLH are negatively impacted in many aspects, including quality of life, physical activity, psychological distress, family and social life, and that the life-long burden of disease can manifest as depression, anxiety and isolation. 24 Studies have also demonstrated an increased rate of mental health issues such as depression and low self-esteem in individuals with XLH. [24][25][26][27] Despite this, most Australian centres do not have a dedicated or specialised social worker or psychologist for paediatric bone disorders.…”

“…24 Studies have also demonstrated an increased rate of mental health issues such as depression and low self-esteem in individuals with XLH. [24][25][26][27] Despite this, most Australian centres do not have a dedicated or specialised social worker or psychologist for paediatric bone disorders. The authors recommend that all children with XLH have access to psychological services.…”

Whole Body, Whole Life, Whole Family: Patients’ Perspectives on X-Linked Hypophosphatemia

“…Finally, there is a great need for, and distinct lack of, transitional care for adolescent patients as they enter adulthood [ 2 , 3 ]. This is likely due to scarcity of specialists familiar with XLH in adults and the outdated perception of XLH as a childhood disorder.…”