Qualitative analysis of pain impact in adult patients with X-linked hypophosphatemia

We previously reported pain as a predominant finding in adult patients with X-linked hypophosphatemia (XLH). This study explored health-related quality of life using the 36-Item Short Form Survey Instrument (SF-36v1) and pain experiences of adults with XLH through qualitative analysis of interviews with 15 patients (11 females, 4 males). Age-adjusted differences using SF-36 were lower than the general population in all domains of health-related quality of life, with significant differences notably related to physical function and pain. Ten themes emerged from semi-structured interviews: (1) chronic and variable pain: patients reported persistent pain of varying intensity and location; (2) impact on mobility and daily life: pain severely restricted daily activities, affecting lifestyle, employment, and independence; (3) pain management: patients used medications, physical therapy, lifestyle changes, alternative therapies, and assistive devices; (4) healthcare and accessibility challenges: access to appropriate care and treatments was limited by insurance issues and healthcare providers' lack of XLH knowledge; (5) emotional and psychological impact: chronic pain and limitations led to social isolation, depression, and emotional burden; (6) desire for improved information and support: patients sought better information, treatment, and community support; (7) challenges with physical inactivity: staying active was essential but difficult, as inactivity worsened pain; (8) navigating healthcare services: accessing therapy and insurance was often challenging; (9) long-term outlook and concerns: patients worried about disease progression and future health; and (10) advocacy and awareness: increased public and medical awareness was needed to improve care. Although pain is not a universal experience within this population, it is a significant issue for many individuals with XLH. These data illustrate the profound impact of XLH on multiple life aspects underscoring the need for effective pain management strategies, better healthcare accessibility, supportive tools, and a more knowledgeable medical community to improve quality of life. Insights from this study will guide the development of a digital pain self-management intervention tailored to XLH patients to address these needs.