Prevalence and Mortality of Individuals With X-Linked Hypophosphatemia: A United Kingdom Real-World Data Analysis

Author:

Hawley Samuel1ORCID,Shaw Nick J23,Delmestri Antonella1,Prieto-Alhambra Daniel14,Cooper Cyrus5,Pinedo-Villanueva Rafael1,Javaid M Kassim15ORCID

Affiliation:

1. Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, University of Oxford, Oxford, UK

2. Birmingham Women’s and Children’s Hospital NHS Foundation Trust, Birmingham, UK

3. Institute of Metabolism & Systems Research, University of Birmingham, Birmingham, UK

4. GREMPAL Research Group, Idiap Jordi Gol and CIBERFes, Universitat Autònoma de Barcelona and Instituto de Salud Carlos III, Barcelona, Spain

5. MRC Lifecourse Epidemiology Unit, University of Southampton, Southampton, UK

Abstract

Abstract Background X-linked hypophosphatemia (XLH) is a rare multisystemic disease with a prominent musculoskeletal phenotype. We aim here to improve understanding of the prevalence of XLH across the life course and of overall survival among people with XLH. 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 4 controls. Trends in prevalence over the study period were estimated (stratified by age) and survival among cases was compared with that of 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 of 64 years. Fourteen (2.9%) of the controls died at median age of 72.5 years. Mortality was significantly increased in those with possible XLH compared with 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 fibroblast growth factor 23–related disorders.

Funder

National Institute for Health Research

Oxford Biomedical Research Centre

Publisher

The Endocrine Society

Subject

Biochemistry (medical),Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference32 articles.

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2. A clinician’s guide to X-linked hypophosphatemia;Carpenter;J Bone Miner Res.,2011

3. Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23;ADHR Consortium;Nat Genet,2000

4. Brief report: inhibition of renal phosphate transport by a tumor product in a patient with oncogenic osteomalacia;Cai;N Engl J Med.,1994

5. Cloning and characterization of FGF23 as a causative factor of tumor-induced osteomalacia;Shimada;Proc Natl Acad Sci U S A.,2001

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