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Prevalence and mortality of individuals with X-linked hypophosphataemia: a United Kindgom real world data analysis

Prevalence and mortality of individuals with X-linked hypophosphataemia: a United Kindgom real world data analysis
Prevalence and mortality of individuals with X-linked hypophosphataemia: a United Kindgom real world data analysis
Background
X-linked hypophosphatemia (XLH) is a rare multisystemic disease with a prominent musculoskeletal phenotype. We aimed here to improve understanding of the prevalence of XLH across the life course and of overall survival.

Methods
This was a population-based cohort study using a large primary care database in the United Kingdom (UK) from 1995 to 2016. XLH cases were matched by age, gender and practice to up to four controls. Trends in prevalence over the study period were estimated (stratified by age) and survival among cases was compared to controls.

Findings
From 522 potential cases, 122 (23.4%) were scored as at least possible XLH while 62 (11.9%) were classified as highly likely or likely (conservative definition). In main analyses, prevalence (95% CI) increased from 3.1 (1.5 – 6.7) per million in 1995 – 1999 to 14.0 (10.8 – 18.1) per million in 2012 – 2016. Corresponding estimates using the conservative definition were 3.0 (1.4 – 6.5) to 8.1 (5.8 – 11.4). Nine (7.4%) of the possible cases died during follow-up, at median age 64 years. Fourteen (2.9%) of the controls died. at median age 72.5 years. Mortality was significantly increased in those with possible XLH compared to controls (hazard ratio [HR] 2.93, 95% CI 1.24 – 6.91). Likewise, among those with likely or highly likely XLH (HR 6.65, 1.44 – 30.72).

Conclusions
We provide conservative estimates of the prevalence of XLH in children and adults within the UK. There was an unexpected increase in mortality in later life which may have implications for other FGF23-related disorders.
0021-972X
1-21
Hawley, Samuel
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Shaw, Nick J.
c9b53ab7-ca2d-4744-83ad-ffe9c1f6a094
Delmestri, Antonella
d6087fde-5a65-41de-9b5e-bcefc4379ceb
Prieto-Alhambra, Daniel
e596722a-2f01-4201-bd9d-be3e180e76a9
Cooper, Cyrus
e05f5612-b493-4273-9b71-9e0ce32bdad6
Pinedo-Villanueva, Rafael
d038070d-b785-4ec9-9b27-4724561fd6ef
Kassim Javaid, M.
12781b29-34fa-4158-837b-daf452b8d4ed
Hawley, Samuel
407712ed-30ba-4458-a0f3-f6278e219845
Shaw, Nick J.
c9b53ab7-ca2d-4744-83ad-ffe9c1f6a094
Delmestri, Antonella
d6087fde-5a65-41de-9b5e-bcefc4379ceb
Prieto-Alhambra, Daniel
e596722a-2f01-4201-bd9d-be3e180e76a9
Cooper, Cyrus
e05f5612-b493-4273-9b71-9e0ce32bdad6
Pinedo-Villanueva, Rafael
d038070d-b785-4ec9-9b27-4724561fd6ef
Kassim Javaid, M.
12781b29-34fa-4158-837b-daf452b8d4ed

Hawley, Samuel, Shaw, Nick J., Delmestri, Antonella, Prieto-Alhambra, Daniel, Cooper, Cyrus, Pinedo-Villanueva, Rafael and Kassim Javaid, M. (2019) Prevalence and mortality of individuals with X-linked hypophosphataemia: a United Kindgom real world data analysis. Journal of Clinical Endocrinology & Metabolism, 1-21. (doi:10.1210/clinem/dgz203).

Record type: Article

Abstract

Background
X-linked hypophosphatemia (XLH) is a rare multisystemic disease with a prominent musculoskeletal phenotype. We aimed here to improve understanding of the prevalence of XLH across the life course and of overall survival.

Methods
This was a population-based cohort study using a large primary care database in the United Kingdom (UK) from 1995 to 2016. XLH cases were matched by age, gender and practice to up to four controls. Trends in prevalence over the study period were estimated (stratified by age) and survival among cases was compared to controls.

Findings
From 522 potential cases, 122 (23.4%) were scored as at least possible XLH while 62 (11.9%) were classified as highly likely or likely (conservative definition). In main analyses, prevalence (95% CI) increased from 3.1 (1.5 – 6.7) per million in 1995 – 1999 to 14.0 (10.8 – 18.1) per million in 2012 – 2016. Corresponding estimates using the conservative definition were 3.0 (1.4 – 6.5) to 8.1 (5.8 – 11.4). Nine (7.4%) of the possible cases died during follow-up, at median age 64 years. Fourteen (2.9%) of the controls died. at median age 72.5 years. Mortality was significantly increased in those with possible XLH compared to controls (hazard ratio [HR] 2.93, 95% CI 1.24 – 6.91). Likewise, among those with likely or highly likely XLH (HR 6.65, 1.44 – 30.72).

Conclusions
We provide conservative estimates of the prevalence of XLH in children and adults within the UK. There was an unexpected increase in mortality in later life which may have implications for other FGF23-related disorders.

Text
v1.5 XLH paper nat history_clean - Accepted Manuscript
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More information

Accepted/In Press date: 1 November 2019
e-pub ahead of print date: 15 November 2019

Identifiers

Local EPrints ID: 436003
URI: http://eprints.soton.ac.uk/id/eprint/436003
ISSN: 0021-972X
PURE UUID: 5881e7fd-e778-4d0d-9aa1-1e3288194e0f
ORCID for Cyrus Cooper: ORCID iD orcid.org/0000-0003-3510-0709

Catalogue record

Date deposited: 26 Nov 2019 17:30
Last modified: 26 Nov 2021 02:40

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Contributors

Author: Samuel Hawley
Author: Nick J. Shaw
Author: Antonella Delmestri
Author: Daniel Prieto-Alhambra
Author: Cyrus Cooper ORCID iD
Author: Rafael Pinedo-Villanueva
Author: M. Kassim Javaid

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