A Cross-Sectional Study
Marta Diaz-delCastillo, Rasmus Bundgaard Espersen, Signe Sparre Beck-Nielsen, Lars Rejnmark, Anne-Marie Heegaard
The Journal of Clinical Endocrinology & Metabolism, Volume 110, Issue 11, November 2025, Pages e3886–e3896
https://doi.org/10.1210/clinem/dgaf104
Hereditary hypophosphatemic disorders such as X-linked hypophosphatemia (XLH) are rare phosphate wasting disorders that cause abnormal bone mineralization, which manifests as bone deformities and dental problems. Pain, stiffness, and fatigue are the main symptoms reported by adult patients with XLH, interfering with their quality of life and activities of daily living. Here we provide a comprehensive evaluation of pain and health related quality of life in patients with XLH.
In this cross-sectional study, 49 adult patients with XLH and 42 healthy sex- and age- matched control participants underwent pressure algometry to determine pain sensitivity. In addition, we collected patient-reported outcome data on pain, quality of life, and mental health through the following questionnaires: (1) Brief Pain Inventory-Short Form, (2) SF-36v2™ Health Survey, (3) painDETECT, (4) Functional Assessment of Cancer Therapy-Bone Pain, (4) Pain Catastrophizing Scale, (5) Generalized Anxiety Disorder 7 and (6) Patient Health Questionnaire 9.
Patients with XLH present altered skin but not bone mechanical pressure pain thresholds, which may suggest referred pain through sensitization mechanisms. Questionnaire data highlight significantly higher pain scores in patients with XLH, which correlate with depression scores. Additionally, patients with XLH report decreased quality of life and mental health, increased pain catastrophizing thinking, and anxiety.
Our results suggest that using patient-reported outcomes is important to understand the pain phenotype and mental health in patients with XLH and can be helpful to dictate treatment aimed at improving their pain and quality of life.
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