The Diagnostic Odyssey in Children and Adolescents With X-linked Hypophosphatemia: Population-Based, Case–Control Study
Authors' conclusion
This characterization of the EHR phenotypes of children and adolescents with XLH may inform future case-finding approaches to expedite diagnosis in primary care.
Study context
- Population
- Children and adolescents with X-linked hypophosphatemia (XLH) in UK primary care electronic healthcare records (EHRs) (Optimum Patient Care Research Database)99 of 261 XLH cases included
- Exposure
- XLH cases vs age-matched controls
- XLH casesn = 99
- Outcome
- Recording of XLH-related clinical features in primary care EHRs
Methodological detailsage-matched controls (100 per case), primary care EHRs, Comparisons by chi-squared or Fisher's exact test
- Age-matched controls (100 per case)
- Primary care EHRs
- Comparisons by chi-squared or Fisher's exact test
Main finding
As reported in the abstract
Recording of XLH-related clinical features
Cases
84
events
- At least 1 XLH-related clinical feature recorded in primary care EHR
- 84/99
- Codes for rickets, genu varum and low phosphate recorded before XLH diagnosis
- under 20% of cases
- Median time recorded before XLH diagnosis: rickets, genu varum, low phosphate
- 1, 1, and 3 years
Observational data: associations, not effects.
Original publication
The Diagnostic Odyssey in Children and Adolescents With X-linked Hypophosphatemia: Population-Based, Case–Control Study. J Clin Endocrinol Metab. Published 9 February 2024. doi:10.
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