Health-related quality of life and a cost-utility simulation of adults in the UK with osteogenesis imperfecta, X-linked hypophosphatemia and fibrous dysplasia

Forestier-Zhang, Lydia; Watts, Laura; Turner, Alison; Teare, Harriet; Kaye, Jane; Barrett, Joe; Cooper, Cyrus; Eastell, Richard; Wordsworth, P; Javaid, M K; Pinedo-Villanueva, Rafael

doi:10.1186/s13023-016-0538-4

Cited by 57 publications

(73 citation statements)

References 21 publications

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“…Relatively few studies on health-related quality of life (HRQoL) in XLH patient populations have been published to date. The evidence suggests that the XLH HRQoL is comparable with other rare musculoskeletal diseases such as osteogenesis imperfecta and fibrous dysplasia and higher than that of similar, but more common musculoskeletal disorders such as axial spondyloarthritis [4,9]. Relatedly, a recent survey among adults with XLH showed low satisfaction with HRQoL and average physical function scores of more than one standard deviation below the population norm [10].…”

Section: Introductionmentioning

confidence: 96%

“…This leads to hypophosphatemia and resultant defective bone and tooth mineralisation. The condition first emerges in childhood, manifesting as vitamin D-resistant rickets, with bowed legs, other skeletal deformities and short stature, leading to impaired physical functioning and pain [3,4]. The chronic nature of XLH leads to ongoing bone and joint damage, softening of the bones and reduced mobility.…”

Section: Introductionmentioning

confidence: 99%

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

Lachmann

Williams

et al. 2020

Qual Life Res

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Introduction X-linked hypophosphatemia (XLH) is a rare, lifelong, progressive disease characterised by renal phosphate wasting and abnormal bone mineralisation. Symptoms begin in early childhood, with the development of rickets and related skeletal deformities and reduced growth, progressing to long-term complications, including pseudofractures and fractures, as well as pain, stiffness and fatigue. The present study was designed to explore the patient experience of pain, stiffness and fatigue and the psychosocial impact of XLH in detail. Methods A cross-sectional qualitative study was conducted in the United Kingdom (18), Finland (6), France (4), Germany (1) and Luxembourg (1) with XLH patients aged 26 and over. Interview discussion guides were developed in consultation with clinical experts and patient associations. Data were analysed thematically. Results Participants (N = 30) described pain, stiffness and fatigue as frequently experienced symptoms with a significant impact on physical functioning and activities of daily living (ADLs). Some also described the symptoms as impacting their mood/mental health, relationships, social life and leisure activities. Participants described how common symptoms could interact or aggravate other symptoms. Symptoms had often worsened over time, and for many, were associated with concern about the future. Most participants were worried or felt guilty about having children with XLH. The findings confirmed and extended the existing model of the burden of XLH. Conclusion The present study is the first to provide an in-depth analysis of pain, stiffness and fatigue, their impact and the interrelatedness of these symptoms among adults with XLH. The study also described the psychosocial impact of XLH as a hereditary, lifelong progressive disease.

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Section: Introductionmentioning

confidence: 96%

Section: Introductionmentioning

confidence: 99%

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

Lachmann

Williams

et al. 2020

Qual Life Res

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“…We did not use a children-specific instrument as we wished to obtain uniform results in children and adults. We chose the EQ-5D instrument because it has been used in other studies on HRQoL in patients with XLH [12] as well as in patients (mainly children) with other rare diseases [16]. Furhermore, the EQ-5D questionnaires are accepted for assessing the HRQoL in children, and the EQ-5D-3L proxy has been considered as a valid instrument [17,18].…”

Section: Discussionmentioning

confidence: 99%

“…There are few studies on HRQoL in patients with XLH and their caregivers [11][12][13]. We therefore analyzed the HRQoL of patients with XLH in Spain in order to improve the care of patients with this rare disease.…”

mentioning

confidence: 99%

Health-related quality of life in children and adults with X-linked hypophoshatemia

Yanes

Díaz-Curiel

Peris

et al. 2019

Preprint

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Background X-linked hypophosphatemia (XLH) is an inherited type of severe rickets leading to deformities and can sometimes become a debilitating condition. Its impact on health-related quality of life (HRQoL) has not been extensively studied. Results Using standardized questionnaires in 21 children and 29 adults with confirmed XLH, we observed significant impaired HRQoL. Children had moderate problems in walking about (61.9%), washing or dressing themselves (9.52%), and performing their usual activities (33.33%). They also felt moderate pain or discomfort (61.9%) and were moderately anxious or depressed (23.81%). The mean EQ-5D-3L/EQ-5D-3L proxy index was 0.79 ± 0.15 and the mean VAS score was 68.33 ± 16.61. Adults had lower HRQoL, particularly with problems in walking (93%, with 3.45% unable to walk independently) and pain (86%, with 3.45% experiencing extreme pain). They also reported problems when carrying out their usual activities (80%) and washing or dressing themselves (>50%), and 65% of adult patients reported symptoms of anxiety and/or depression. The differences compared with the general Spanish population were significant, especially in the mobility and pain/discomfort dimensions of the EQ-5D-5L instrument. Caregivers and parents showed mild reduction in HRQoL, with a mean EQ-5D-5L index value (0.82 ± 0.16) and a mean VAS score (75.48 ± 17.24) smaller than that found in the general Spanish population. Conclusions X-linked hypophosphatemia reduced health-related quality of life despite treatment. These results evidenced limitations of conventional treatment in preventing disease complications, which in turn impaired quality of life in pediatric and adult patients.

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“…The establishment of a formal register of the efficacy of medical and surgical treatments used for individuals with the condition would be useful in redressing this imbalance. For example, in the UK, the RUDY electronic patient platform could serve such a function [65] and has previously been used for generating similar data relating to osteogenesis imperfecta, X-linked hypophosphataemia and fibrous dysplasia [66]. This could be particularly helpful in collecting individual responses to surgical treatments that are often unique.…”

Section: Future Directionsmentioning

confidence: 99%

Melorheostosis and Osteopoikilosis: A Review of Clinical Features and Pathogenesis

Wordsworth

Chan

2019

Calcif Tissue Int

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Melorheostosis is an exceptionally rare sclerosing hyperostosis that typically affects the appendicular skeleton in a limited segmental fashion. It occasionally occurs on a background of another benign generalised sclerosing bone condition, known as osteopoikilosis caused by germline mutations in LEMD3, encoding the inner nuclear membrane protein MAN1, which modulates TGFβ/bone morphogenetic protein signalling. Recent studies of melorheostosis lesional tissue indicate that most cases arise from somatic MAP2K1 mutations although a small number may arise from other genes in related pathways, such as KRAS. Those cases associated with MAP2K1 mutations are more likely to have the classic "dripping candle wax" appearance on radiographs. The relationship between these somatic mutations and those found in a variety of malignant conditions is discussed. There are also similar germline mutations involved in a group of genetic disorders known as the RASopathies (including Noonan syndrome, Costello syndrome and various cardiofaciocutaneous syndromes), successful treatments for which could be applied to melorheostosis. The diagnosis and management of melorheostosis are discussed; there are 4 distinct radiographic patterns of melorheostosis and substantial overlap with mixed sclerosing bone dysplasia. Medical treatments include bisphosphonates, but definitive guidance on their use is lacking given the small number of patients that have been studied. Surgical intervention may be required for those with large bone growths, nerve entrapments, joint impingement syndromes or major limb deformities. Bone regrowth is uncommon after surgery, but recurrent contractures represent a major issue in those with extensive associated soft tissue involvement.

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Health-related quality of life and a cost-utility simulation of adults in the UK with osteogenesis imperfecta, X-linked hypophosphatemia and fibrous dysplasia

Cited by 57 publications

References 21 publications

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

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

Health-related quality of life in children and adults with X-linked hypophoshatemia

Melorheostosis and Osteopoikilosis: A Review of Clinical Features and Pathogenesis

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