External validation of the proposed diagnostic criteria for hypophosphatasia in adults of a Spanish cohort
Authors' conclusion
HPP criteria show high sensitivity and specificity, supporting their clinical utility. Diagnostic performance is optimal when biochemical and genetic data are available. In settings lacking access to genetic testing or substrates, sensitivity is notably reduced despite preserved specificity, and clinical features alone provide limited discriminative value.
Study context
- Population
- Spanish adults with persistently low ALP
- Participants
- 83 adults
- Comparison
- Proposed hypophosphatasia (HPP) diagnostic criteria in adults with positive vs negative ALPL genetic test
- + GTn = 47
- -GTn = 36reference
- Outcome
- Diagnostic performance of the proposed HPP criteria: sensitivity, specificity, predictive values and AUC
Methodological detailsexternal validation
- External validation
Performance
As reported in the abstract
Meeting the HPP diagnostic criteria
- Two-major criteria arm: sensitivity
- 95.7%
- Two-major criteria arm: specificity
- 100%
- One-major plus two-minor arm: sensitivity (lower)
- 44.7%
- One-major plus two-minor arm: specificity
- 97.2%
- Elevated-substrate criterion: sensitivity
- 97.9%
- Elevated-substrate criterion: specificity
- 33.3%
Further findings
Meeting criteria in + GT under limited-data scenarios
- Without genetic testing: met criteria
- 51.1% (AUC 0.741)
- Without substrate data: met criteria
- 44.7% (AUC 0.71)
- Clinical features only: met criteria
- 6.4% (AUC 0.532)
Most discriminative variables
- Chronic musculoskeletal pain, early tooth loss and chondrocalcinosis
Original publication
External validation of the proposed diagnostic criteria for hypophosphatasia in adults of a Spanish cohort. Osteoporos Int. Published 16 February 2026. doi:10.
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