Endocrine Abstracts

JOINT2043

Background: X-linked hypophosphatemic rickets (XLH) is a rare genetic disorder causing chronic hypophosphatemia, impaired bone mineralization, and musculoskeletal complications. Despite advances in treatment, patients continue to experience a significant disease burden affecting their quality of life. This study explores the lived experiences of patients and caregivers to identify key challenges in disease management.

Methods: This qualitative study collected data through an open-ended survey distributed by the Spanish Association of Hereditary Rickets and Osteomalacia (AERyOH). A total of 11 responses (7 patients, 4 family members) were analyzed using MAXQDA software to identify key themes.

Results: Four major themes emerged. (1) Diagnostic delay: Many patients, especially adults, reported years of misdiagnosis, leading to delayed treatment and irreversible complications. (2) Treatment burden: The need for frequent phosphate and vitamin D intake, along with side effects, posed adherence challenges. (3) Physical limitations and chronic pain: Mobility issues and persistent pain significantly impact daily life. (4) Psychosocial impact: Participants experienced stigmatization, social isolation, and work-related challenges. Family members also reported emotional distress and caregiving burdens.

Conclusions: XLH affects not only physical health but also emotional and social well-being. Early diagnosis, optimized treatments, and psychosocial support are essential to improving patient outcomes. A multidisciplinary, patient-centered approach is needed to address these challenges and enhance the quality of life for individuals with XLH.