Exploring the burden of X-linked hypophosphatemia: a European multi-country qualitative study

Lo, Suzanne Hoi Shan; Lachmann, Robin; Williams, Angela; Piglowska, N.; Lloyd, Andrew

doi:10.1007/s11136-020-02465-x

Cited by 40 publications

(40 citation statements)

References 17 publications

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“…An impaired HRQoL was also found in patients with XLH (a genetic form of a FGF23‐related hypophosphatemic disease). ( 23–25 ) XLH patients showed mean values of SF‐36 score similar to patients with chronic musculoskeletal diseases such as rheumatoid arthritis or juvenile idiopathic arthritis. ( 25 ) Indeed, in our population, the physical summary measurements were significantly lower even in comparison with a population with chronic conditions in Argentina.…”

Section: Discussionmentioning

confidence: 89%

Burden of Disease in Patients With Tumor‐Induced Osteomalacia

et al. 2020

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Tumor‐induced osteomalacia (TIO) is a chronic condition associated with muscle weakness and long‐term disability. We conducted a cross‐sectional study of patients diagnosed with TIO who had been referred to our institution between May 2018 and December 2019. Our aim was to assess health‐related quality of life (HRQoL), fatigue, pain, and muscle mass and strength in these patients. Detailed information was obtained regarding general characteristics, initial symptoms and biochemical parameters measured at diagnosis and on the first visit to our institution. Fatigue was assessed using the Functional Assessment of Chronic Illness Therapy‐Fatigue (FACIT‐Fatigue) scale, pain using the Brief Pain Inventory–Short Form (BPI‐sf) scale and HRQoL by the 36‐item Short Form survey (SF‐36) questionnaire. Eight patients were included in the study: three without tumor localization, four with nonremission after surgery, and one with clinical recurrence 2 years after surgery. Fatigue experienced by patients with TIO was significantly higher compared to the general population (p ˂ .0001). The physical summary measure of the SF‐36 showed significantly lower values than those of the Argentinean population with chronic conditions (mean 20.4 versus 45.9, p < .0001). According to the BPI‐sf, patients with TIO have moderate average pain and the pain interferes severely with walking, general activities, work, and mood. Seven patients had a diagnosis of sarcopenia, four of which had severe sarcopenia. To our best knowledge, this is the first study aimed to quantify fatigue, pain, HRQoL, and muscle mass and strength in a group of patients with TIO. We hope our results contribute to a better understanding of the burden of disease and to establish a basis for future studies—with larger samples—which will make it possible to assess the efficacy of therapeutic interventions for these conditions. © 2020 American Society for Bone and Mineral Research © 2020 The Authors. JBMR Plus published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research.

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Section: Discussionmentioning

confidence: 89%

Burden of Disease in Patients With Tumor‐Induced Osteomalacia

et al. 2020

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“…These reports may be an underestimate, as patients may not be aware of having these complications when self-reporting; other adult study populations have reported prevalence of these symptoms in the region of 61% to 85% [ 11 ]. These clinical morbidities have considerable impact on mobility, physical functioning, ability to perform daily activities, emotional wellbeing, and social/family/work life [ 4 , 8 , 12 ]. Moreover, pain and quality of life (QOL) physical functioning in adults with XLH was reported as significantly worse when compared with adults with another chronic skeletal disease (axial spondyloarthritis) [ 13 ].…”

mentioning

confidence: 99%

Patient-Reported Complications, Symptoms, and Experiences of Living With X-Linked Hypophosphatemia Across the Life-Course

Cheung

Rylands

Williams

et al. 2021

Journal of the Endocrine Society

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Background X-linked hypophosphatemia (XLH) is a rare, genetic phosphate-wasting disease resulting in bone, muscular and dental problems, beginning in childhood and increasing in adulthood. This qualitative analysis aimed to explore patient-reported symptoms, complications and experiences of XLH over the life-course, using data from a large multinational online survey. Methods Responses to two open-ended questions from 209 adults and 86 children/adolescents (proxy report) with self-reported XLH were analyzed in eight age groups. Two researchers independently coded and analyzed the responses, using thematic analysis, with differences settled among a multi-disciplinary group. Six themes were identified, with age sub-group analysis conducted on the three most common, according to coding frequency. Results Within theme 1, ‘Clinical Signs and Symptoms of XLH’, ‘Pain’ was a dominant sub-theme across the life-course, but ‘Skeletal Pathology’ dominated the responses of children/adolescents. Within theme 2, ‘Impacts of Clinical Signs and Symptoms’, interference with ‘Physical Exertion’ and ‘Emotional Wellbeing’ (comprising depression/anxiety in adults and lack of self-esteem in children/adolescents) was reported across all ages. For theme 3, ‘Negative Treatment Experiences’, ‘Medication’ was problematic for children, with adults reporting lack of ‘Access to Appropriate Treatment’. Three further themes were identified: ‘Resilience’, ‘Positive Treatment Experiences’, and ‘Information Needs.’ Conclusion The multiple burdens imposed on people with XLH throughout their lifetime encompassed the physical, emotional and social, although the most challenging symptoms or complications differed between ages. Burden was further exacerbated by adult’s lack of access to appropriate treatment, illustrating the need for age-appropriate multidisciplinary care.

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“…We recommend the development of local protocols for transitional care between pediatric and adult metabolic bone disease specialists, as well as family-based outpatient clinics with pediatric-adult collaboration. In our experience, affected parents sometimes feel inappropriately guilty and/or neglect their own health to focus on their affected children ( 124 ). Several specialties should be available on a systematic or consulting basis including dentists, orthodontists and maxillofacial surgeons, pediatric and adult endocrinologists, nephrologists, rheumatologists, orthopedic surgeons, neurosurgeons, radiologists, geneticists, physical medicine and rehabilitation specialists, urologists, otolaryngolostist, ophthalmologists (to perform fundoscopy) etc .…”

Section: Resultsmentioning

confidence: 99%

Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium

et al. 2021

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X-linked hypophosphatemia (XLH) is the most common genetic form of hypophosphatemic rickets and osteomalacia. In this disease, mutations in the PHEX gene lead to elevated levels of the hormone fibroblast growth factor 23 (FGF23), resulting in renal phosphate wasting and impaired skeletal and dental mineralization. Recently, international guidelines for the diagnosis and treatment of this condition have been published. However, more specific recommendations are needed to provide guidance at the national level, considering resource availability and health economic aspects. A national multidisciplinary group of Belgian experts convened to discuss translation of international best available evidence into locally feasible consensus recommendations. Patients with XLH may present to a wide array of primary, secondary and tertiary care physicians, among whom awareness of the disease should be raised. XLH has a very broad differential-diagnosis for which clinical features, biochemical and genetic testing in centers of expertise are recommended. Optimal care requires a multidisciplinary approach, guided by an expert in metabolic bone diseases and involving (according to the individual patient’s needs) pediatric and adult medical specialties and paramedical caregivers, including but not limited to general practitioners, dentists, radiologists and orthopedic surgeons. In children with severe or refractory symptoms, FGF23 inhibition using burosumab may provide superior outcomes compared to conventional medical therapy with phosphate supplements and active vitamin D analogues. Burosumab has also demonstrated promising results in adults on certain clinical outcomes such as pseudofractures. In summary, this work outlines recommendations for clinicians and policymakers, with a vision for improving the diagnostic and therapeutic landscape for XLH patients in Belgium.

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Exploring the burden of X-linked hypophosphatemia: a European multi-country qualitative study

Cited by 40 publications

References 17 publications

Burden of Disease in Patients With Tumor‐Induced Osteomalacia

Burden of Disease in Patients With Tumor‐Induced Osteomalacia

Patient-Reported Complications, Symptoms, and Experiences of Living With X-Linked Hypophosphatemia Across the Life-Course

Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium

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