Giving Credence to the Experience of X-Linked Hypophosphatemia in Adulthood: An Interprofessional Mixed-Methods Study

Abstract

Purpose: X-linked hypophosphatemia (XLH) is a rare X-linked dominant metabolic bone disease, often diagnosed in childhood but causing increasing physical debilitation and pain in adulthood. Physical comorbidities of XLH in adulthood include pervasive and early-onset degenerative arthritis, mineralizing enthesophytes and osteophytes, osteomalacia and pseudofracture, dental abscesses, and hearing loss. Methods: This mixed-methods analysis included physical findings, diagnostic imaging, occupational and physical therapy assessments, and semi-structured interviews by social work to understand the functional outcomes and lived experience of XLH in adulthood, through connections between qualitative data obtained by social work and occupational therapy with the quantitative findings from other disciplines. Results: Three primary themes of chronic pain, fear of falling, and lack of credence given by health care providers emerged from qualitative data and could be correlated with physical findings from functional outcome assessments These concerns contrasted with resilience, adaption, and compensation demonstrated by participants. Conclusions: While new treatments may ease the burden of disease for adults with XLH, further research, increased provider awareness and education, and further development of standards of care are needed to promote accurate and adequate assessment and intervention for adults with XLH.

Keywords

• x-linked hypophosphatemia
• endocrine
• musculoskeletal
• occupational therapy
• physical therapy
• social work
• pain
• providers