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The Lifelong Impact of X-Linked Hypophosphatemia: Results From a Burden of Disease Survey

CONTEXT: X-linked hypophosphatemia (XLH) is characterized by excess fibroblast growth factor 23 (FGF23), hypophosphatemia, skeletal abnormalities, and growth impairment. We aimed to understand the burden of disease of XLH across the lifespan. METHODS: Responses were collected from adults with XLH an...

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Autores principales: Skrinar, Alison, Dvorak-Ewell, Melita, Evins, Ayla, Macica, Carolyn, Linglart, Agnès, Imel, Erik A, Theodore-Oklota, Christina, San Martin, Javier
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Endocrine Society 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6595532/
https://www.ncbi.nlm.nih.gov/pubmed/31259293
http://dx.doi.org/10.1210/js.2018-00365
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author Skrinar, Alison
Dvorak-Ewell, Melita
Evins, Ayla
Macica, Carolyn
Linglart, Agnès
Imel, Erik A
Theodore-Oklota, Christina
San Martin, Javier
author_facet Skrinar, Alison
Dvorak-Ewell, Melita
Evins, Ayla
Macica, Carolyn
Linglart, Agnès
Imel, Erik A
Theodore-Oklota, Christina
San Martin, Javier
author_sort Skrinar, Alison
collection PubMed
description CONTEXT: X-linked hypophosphatemia (XLH) is characterized by excess fibroblast growth factor 23 (FGF23), hypophosphatemia, skeletal abnormalities, and growth impairment. We aimed to understand the burden of disease of XLH across the lifespan. METHODS: Responses were collected from adults with XLH and parents/caregivers of a child with XLH in an online survey, including multiple-choice and open-ended questions on demographics, disease manifestations, treatment history, assistive device use, and age-specific patient-reported outcomes (PROs). RESULTS: Data were collected from 232 adults with XLH (mean age, 45.6 years; 76% female) and 90 parents/caregivers of a child with XLH (mean age, 9.1 years; 56% female). Mean age recalled for symptom onset was 3.2 years for adults and 1.3 years for children. When surveyed, nearly all children (99%) and 64% of adults were receiving oral phosphate, active vitamin D, or both. Prior participation in a trial investigating burosumab, a fully human monoclonal antibody against FGF23, was reported in 3% of children and 10% of adults; of these respondents, only one child reported current treatment with burosumab at the time of the survey. Both children and adults reported typical features of XLH, including abnormal gait (84% and 86%, respectively), bowing of the tibia/fibula (72% and 77%), and short stature (80% and 86%). Nearly all adults (97%) and children (80%) reported bone or joint pain/stiffness. Adults reported a history of fractures (n/N = 102/232; 44%), with a mean (SD) age at first fracture of 26 (16) years. Adults reported osteophytes (46%), enthesopathy (27%), and spinal stenosis (19%). Mean scores for PROs evaluating pain, stiffness, and physical function were worse than population norms. Analgesics were taken at least once a week by 67% of adults. CONCLUSIONS: Despite the common use of oral phosphate and active vitamin D established in the 1980s, children with XLH demonstrate a substantial disease burden, including pain and impaired physical functioning that persists, as demonstrated by similar responses reported in adults with XLH.
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spelling pubmed-65955322019-06-28 The Lifelong Impact of X-Linked Hypophosphatemia: Results From a Burden of Disease Survey Skrinar, Alison Dvorak-Ewell, Melita Evins, Ayla Macica, Carolyn Linglart, Agnès Imel, Erik A Theodore-Oklota, Christina San Martin, Javier J Endocr Soc Clinical Research Articles CONTEXT: X-linked hypophosphatemia (XLH) is characterized by excess fibroblast growth factor 23 (FGF23), hypophosphatemia, skeletal abnormalities, and growth impairment. We aimed to understand the burden of disease of XLH across the lifespan. METHODS: Responses were collected from adults with XLH and parents/caregivers of a child with XLH in an online survey, including multiple-choice and open-ended questions on demographics, disease manifestations, treatment history, assistive device use, and age-specific patient-reported outcomes (PROs). RESULTS: Data were collected from 232 adults with XLH (mean age, 45.6 years; 76% female) and 90 parents/caregivers of a child with XLH (mean age, 9.1 years; 56% female). Mean age recalled for symptom onset was 3.2 years for adults and 1.3 years for children. When surveyed, nearly all children (99%) and 64% of adults were receiving oral phosphate, active vitamin D, or both. Prior participation in a trial investigating burosumab, a fully human monoclonal antibody against FGF23, was reported in 3% of children and 10% of adults; of these respondents, only one child reported current treatment with burosumab at the time of the survey. Both children and adults reported typical features of XLH, including abnormal gait (84% and 86%, respectively), bowing of the tibia/fibula (72% and 77%), and short stature (80% and 86%). Nearly all adults (97%) and children (80%) reported bone or joint pain/stiffness. Adults reported a history of fractures (n/N = 102/232; 44%), with a mean (SD) age at first fracture of 26 (16) years. Adults reported osteophytes (46%), enthesopathy (27%), and spinal stenosis (19%). Mean scores for PROs evaluating pain, stiffness, and physical function were worse than population norms. Analgesics were taken at least once a week by 67% of adults. CONCLUSIONS: Despite the common use of oral phosphate and active vitamin D established in the 1980s, children with XLH demonstrate a substantial disease burden, including pain and impaired physical functioning that persists, as demonstrated by similar responses reported in adults with XLH. Endocrine Society 2019-05-07 /pmc/articles/PMC6595532/ /pubmed/31259293 http://dx.doi.org/10.1210/js.2018-00365 Text en Copyright © 2019 Endocrine Society https://creativecommons.org/licenses/by/4.0/ This article has been published under the terms of the Creative Commons Attribution License (CC BY; https://creativecommons.org/licenses/by/4.0/).
spellingShingle Clinical Research Articles
Skrinar, Alison
Dvorak-Ewell, Melita
Evins, Ayla
Macica, Carolyn
Linglart, Agnès
Imel, Erik A
Theodore-Oklota, Christina
San Martin, Javier
The Lifelong Impact of X-Linked Hypophosphatemia: Results From a Burden of Disease Survey
title The Lifelong Impact of X-Linked Hypophosphatemia: Results From a Burden of Disease Survey
title_full The Lifelong Impact of X-Linked Hypophosphatemia: Results From a Burden of Disease Survey
title_fullStr The Lifelong Impact of X-Linked Hypophosphatemia: Results From a Burden of Disease Survey
title_full_unstemmed The Lifelong Impact of X-Linked Hypophosphatemia: Results From a Burden of Disease Survey
title_short The Lifelong Impact of X-Linked Hypophosphatemia: Results From a Burden of Disease Survey
title_sort lifelong impact of x-linked hypophosphatemia: results from a burden of disease survey
topic Clinical Research Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6595532/
https://www.ncbi.nlm.nih.gov/pubmed/31259293
http://dx.doi.org/10.1210/js.2018-00365
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