Giving Credence to the Experience of X-Linked Hypophosphatemia in Adulthood: An Interprofessional Mixed-Methods Study

Hughes, Melissa; Macica, Carolyn M.; Meriano, Catherine; Doyle, Maya

doi:10.17294/2330-0698.1727

Cited by 23 publications

(42 citation statements)

References 41 publications

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“…With the fusion of the growth plates during puberty, the skeletal deformities become permanent, often requiring corrective surgery [ 6 , 7 ]. The development of subsequent morbidities has deleterious impacts on multiple body systems into adult life [ 4 , 8 ]. Even for young adults, musculoskeletal morbidities can include pseudo-fractures, fractures, osteoporosis, osteoarthritis, osteophytes, enthesopathy, and spinal stenosis [ 9-11 ].…”

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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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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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“…Nevertheless, even adults with milder forms usually develop symptoms in their third or fourth decade, which may include bone and joint pain, fatigue, enthesopathy (commonly involving the hips and anterior spinal ligament), pseudofractures, dental complications and early osteoarthritis (15). These complications ultimately cause chronic pain, impaired mobility, loss of productivity and lower quality of life (9,(15)(16)(17)(18)(19)(20). Extraskeletal complications include hearing loss, symptomatic Chiari malformations, arterial hypertension [(possibly induced by oral phosphate supplements (21,22)].…”

Section: Introductionmentioning

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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“…In a recent study concerning Credence to the Experience of XLH in adulthood, almost all participants reported more than one experience in which health care professional challenged their reported symptoms (e.g., bone pain) or questioned their diagnosis of XLH. Participants expressed concern about taking advice from providers who were not knowledgeable about XLH (17).…”

Section: Discussionmentioning

confidence: 99%

“…The richness of this type of study is that the information collected goes beyond the initial objectives. Even though the study focused on the oral health care pathway, the patients were able to express themselves freely on the limitations due to their disability, especially about their social integration, their relationship with others and their place in society (17). This is illustrated by what patients report in the study of daily limitations and pain due to the disease.…”

Section: Discussionmentioning

confidence: 99%

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Oral health-related quality of life in patients with X-linked hypophosphatemia: a qualitative exploration

Nguyen

Celestin

Chambolle³

et al. 2021

Preprint

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Background. X-linked hypophosphatemia (XLH) is a rare, hereditary, and lifelong phosphate wasting disorder characterized by rickets in childhood and impaired teeth mineralization. In the oral cavity, spontaneous abscesses can often occur without any clinical signs of alteration of the causal tooth. The objective of our study was to evaluate the oral care pathway and the oral health-related quality of life (OHRQoL) of patients followed in an expert oral medicine department located within a Parisian hospital and working in close collaboration with an endocrinology department expert in this pathology. Methods. This study employed a qualitative descriptive design including semi-structured interviews using guiding themes. Results. Twenty-one patients were included in the study. The topics brought up exceeded the initial objectives as the patients mostly addressed the alteration of their oral and general quality of life; a very chaotic oral health care pathway with oral health professionals not aware of their pathology; consequences on their social, professional, and school integration; access to care complicated by financial factors. Patients declared the importance of having a multidisciplinary team around them, including medical and dental professionals.Conclusions. The variety of manifestations in patients with XLH necessitates a high coordination of multidisciplinary patient care to optimize quality of life and reduce disease burden. Oral health care pathways are very chaotic for patients who have difficulty finding professionals with sufficient knowledge of the disease. OHRQoL is therefore diminished. This situation improves when patients enter a coordinated care network.

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Giving Credence to the Experience of X-Linked Hypophosphatemia in Adulthood: An Interprofessional Mixed-Methods Study

Abstract: Journal of Patient-Centered Research and Reviews (JPCRR) is an open access, peer-reviewed medical journal focused on disseminating scholarly works devoted to improving patient-centered care practices, health outcomes, and the patient experience.

Cited by 23 publications

References 41 publications

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

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

Oral health-related quality of life in patients with X-linked hypophosphatemia: a qualitative exploration

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