The Burden of X-Linked Hypophosphatemia on Patients and Caregivers in South Korea: A Narrative Interview Approach

OBJECTIVES: To investigate the poorly understood burden of the disease on a rare genetic disease X-linked hypophosphatemia (XLH) patients and their caregivers in Korea

METHODS: We conducted face-to-face narrative interviews with adult patients (≥19 years) or primary caregivers of pediatric patients (<12 years) with clinical confirmation of XLH from November 2023 to February 2024. Open-ended questions explored the disease burden, including the physical and psychological impacts, healthcare utilization, daily life discomfort, and overall life satisfaction. Concept elicitation was incorporated to gain comprehensive insights into patient experiences. We fully transcribed the narratives, eliminated stop words, and standardized word forms before processing the text mining. We performed word cloud clustering with Voyant Tools and topic analysis using Microsoft Excel.

RESULTS: Twelve individuals (four adults and eight caregivers) participated in the study. Only one adult patient (25%) reported using an assistive device for mobility. The mean age of adults was 34.75 years (SD 8.66) and for pediatrics was 7 years (SD 2.56). Key burdens of XLH identified included symptoms, financial burden, social impacts, treatment, and emotional burden. Three adult patients and six caregivers reported medical expenses. Seven out of eight caregivers reported frequent hospital visits, while only one adult mentioned this. All adult patients and half of the caregivers reported work or academic difficulties. Half of the adult patients noted a lack of experts contrasting with only 25% among the caregivers. Two adults and five caregivers mentioned frustration with their future health. Word cloud revealed financial burdens such as “cost” and social impacts including “gaze,” “school,” and “work.” Emotional burdens were reflected in terms like “psychology” and “concerns,”.

CONCLUSIONS: This study underscores the multifaceted disease burden experienced by XLH patients, revealing differences between adult patients and caregivers. It highlights the necessity for tailored management strategies to alleviate the diverse impacts of XLH on both patients and caregivers.