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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.

Original publication




Journal article


J clin endocrinol metab

Publication Date



XLH, hypophosphataemia, prevalence, rate, rickets, survival