TY - JOUR
T1 - Pain, Quality of Life and Mental Health in Adults With X-Linked Hypophosphatemia
T2 - A Cross-Sectional Study
AU - Diaz-delCastillo, Marta
AU - Espersen, Rasmus Bundgaard
AU - Beck-Nielsen, Signe Sparre
AU - Rejnmark, Lars
AU - Heegaard, Anne-Marie
N1 - © The Author(s) 2025. Published by Oxford University Press on behalf of the Endocrine Society. All rights reserved. For commercial re-use, please contact [email protected] for reprints and translation rights for reprints. All other permissions can be obtained through our RightsLink service via the Permissions link on the article page on our site—for further information please contact [email protected]. See the journal About page for additional terms.
PY - 2025/2/19
Y1 - 2025/2/19
N2 - OBJECTIVE: 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.DESIGN AND METHODS: In this cross-sectional study, forty-nine adult patients with XLH and forty-two 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: (i) brief pain inventory- short form, (ii) SF-36v2™ Health Survey, (iii) painDETECT, (iv) Functional Assessment of Cancer Therapy- Bone Pain, (iv) Pain Catastrophizing Scale, (v) Generalized Anxiety Disorder 7 and (vi) Patient Health Questionnaire 9.RESULTS: 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.CONCLUSION: 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.
AB - OBJECTIVE: 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.DESIGN AND METHODS: In this cross-sectional study, forty-nine adult patients with XLH and forty-two 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: (i) brief pain inventory- short form, (ii) SF-36v2™ Health Survey, (iii) painDETECT, (iv) Functional Assessment of Cancer Therapy- Bone Pain, (iv) Pain Catastrophizing Scale, (v) Generalized Anxiety Disorder 7 and (vi) Patient Health Questionnaire 9.RESULTS: 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.CONCLUSION: 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.
U2 - 10.1210/clinem/dgaf104
DO - 10.1210/clinem/dgaf104
M3 - Journal article
C2 - 39969548
SN - 0021-972X
JO - The Journal of clinical endocrinology and metabolism
JF - The Journal of clinical endocrinology and metabolism
ER -