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Burden of disease associated with X-linked hypophosphataemia in adults: a systematic literature review

SUMMARY: This systematic review collated evidence on the burden of XLH in adults. Data captured highlight the substantial ongoing burden of XLH in adulthood and identified unmet needs. Greater awareness and understanding of the impact of XLH in adulthood are needed to improve care and outcomes in ad...

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Autores principales: Seefried, L., Smyth, M., Keen, R., Harvengt, P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer London 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7755619/
https://www.ncbi.nlm.nih.gov/pubmed/32710160
http://dx.doi.org/10.1007/s00198-020-05548-0
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author Seefried, L.
Smyth, M.
Keen, R.
Harvengt, P.
author_facet Seefried, L.
Smyth, M.
Keen, R.
Harvengt, P.
author_sort Seefried, L.
collection PubMed
description SUMMARY: This systematic review collated evidence on the burden of XLH in adults. Data captured highlight the substantial ongoing burden of XLH in adulthood and identified unmet needs. Greater awareness and understanding of the impact of XLH in adulthood are needed to improve care and outcomes in adults with XLH. INTRODUCTION: X-linked hypophosphataemia (XLH) is a rare metabolic bone disease characterized by renal phosphate wasting and musculoskeletal manifestations. Whilst the disease’s impact in children is well documented, information on the effects of this progressive, debilitating condition on adults is lacking. This systematic review aimed to collate existing evidence on the burden of XLH in adulthood to identify unmet needs. METHODS: MEDLINE, Embase and Cochrane Library databases and recent congress reports were searched on 19 February 2019 for English-language publications describing the medical, humanistic and socio-economic impact of XLH in adults (≥ 18 years old). In addition, a structured Internet search was conducted. RESULTS: Of the 2351 articles identified, 91 met the selection criteria along with 44 congress abstracts. Data show that adults with XLH experience a range of clinical manifestations, particularly skeletal deformities and (pseudo)fractures, along with pain, dental abnormalities and impaired physical function and mobility. XLH in adulthood impacts on quality of life and places limitations on daily activities. The level of healthcare resource utilization among adults with XLH is indicative of substantial socio-economic burden; further research is needed to quantitate the economic impact on the healthcare system, society and patients. Adults with XLH may not receive appropriate care and treatment; a possible explanation for this is a lack of awareness among healthcare professionals. CONCLUSION: XLH in adults is associated with considerable disease burden and unmet needs. Forthcoming studies and increased awareness of the impact of XLH in adulthood should help to improve management of XLH in adulthood and patient outcomes. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1007/s00198-020-05548-0) contains supplementary material, which is available to authorized users.
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spelling pubmed-77556192020-12-28 Burden of disease associated with X-linked hypophosphataemia in adults: a systematic literature review Seefried, L. Smyth, M. Keen, R. Harvengt, P. Osteoporos Int Review SUMMARY: This systematic review collated evidence on the burden of XLH in adults. Data captured highlight the substantial ongoing burden of XLH in adulthood and identified unmet needs. Greater awareness and understanding of the impact of XLH in adulthood are needed to improve care and outcomes in adults with XLH. INTRODUCTION: X-linked hypophosphataemia (XLH) is a rare metabolic bone disease characterized by renal phosphate wasting and musculoskeletal manifestations. Whilst the disease’s impact in children is well documented, information on the effects of this progressive, debilitating condition on adults is lacking. This systematic review aimed to collate existing evidence on the burden of XLH in adulthood to identify unmet needs. METHODS: MEDLINE, Embase and Cochrane Library databases and recent congress reports were searched on 19 February 2019 for English-language publications describing the medical, humanistic and socio-economic impact of XLH in adults (≥ 18 years old). In addition, a structured Internet search was conducted. RESULTS: Of the 2351 articles identified, 91 met the selection criteria along with 44 congress abstracts. Data show that adults with XLH experience a range of clinical manifestations, particularly skeletal deformities and (pseudo)fractures, along with pain, dental abnormalities and impaired physical function and mobility. XLH in adulthood impacts on quality of life and places limitations on daily activities. The level of healthcare resource utilization among adults with XLH is indicative of substantial socio-economic burden; further research is needed to quantitate the economic impact on the healthcare system, society and patients. Adults with XLH may not receive appropriate care and treatment; a possible explanation for this is a lack of awareness among healthcare professionals. CONCLUSION: XLH in adults is associated with considerable disease burden and unmet needs. Forthcoming studies and increased awareness of the impact of XLH in adulthood should help to improve management of XLH in adulthood and patient outcomes. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1007/s00198-020-05548-0) contains supplementary material, which is available to authorized users. Springer London 2020-07-24 2021 /pmc/articles/PMC7755619/ /pubmed/32710160 http://dx.doi.org/10.1007/s00198-020-05548-0 Text en © The Author(s) 2020 Open Access This article is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License, which permits any non-commercial use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by-nc/4.0/.
spellingShingle Review
Seefried, L.
Smyth, M.
Keen, R.
Harvengt, P.
Burden of disease associated with X-linked hypophosphataemia in adults: a systematic literature review
title Burden of disease associated with X-linked hypophosphataemia in adults: a systematic literature review
title_full Burden of disease associated with X-linked hypophosphataemia in adults: a systematic literature review
title_fullStr Burden of disease associated with X-linked hypophosphataemia in adults: a systematic literature review
title_full_unstemmed Burden of disease associated with X-linked hypophosphataemia in adults: a systematic literature review
title_short Burden of disease associated with X-linked hypophosphataemia in adults: a systematic literature review
title_sort burden of disease associated with x-linked hypophosphataemia in adults: a systematic literature review
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7755619/
https://www.ncbi.nlm.nih.gov/pubmed/32710160
http://dx.doi.org/10.1007/s00198-020-05548-0
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