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

CONTEXT: 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. OBJECTIVE: 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 2 open-ended questions from 209 adults and 86 children/adolescents (proxy report) with self-reported XLH were analyzed in 8 age groups. Two researchers independently coded and analyzed the responses, using thematic analysis, with differences settled among a multidisciplinary group. Six themes were identified, with age subgroup analysis conducted on the 3 most common, according to coding frequency. RESULTS: Within theme 1, “Clinical Signs and Symptoms of XLH,” “Pain” was a dominant subtheme 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 adults’ lack of access to appropriate treatment, illustrating the need for age-appropriate multidisciplinary care.