Identification of hypophosphatasia in adults with persistent hypophosphatasemia: clinical-genetic characterization and a validated diagnostic tool
Authors' conclusion
This study provides the largest clinical-genetic characterization of adult HPP in China and proposes a simple four-variable nomogram that enables accurate recognition of HPP without PLP testing, facilitating earlier diagnosis in routine practice.
Study context
- Population
- Adults with persistent hypophosphatasemia, Chinaexternal validation n = 40
- Comparison
- Hypophosphatasia (HPP) vs persistent hypophosphatasemia with negative ALPL testing; Model 1 vs Model 0
- HPPn = 72
- ALPL-negativen = 36reference
- Outcome
- Diagnostic performance for HPP
Methodological detailsdiagnostic model development, tenfold cross-validation, decision curve analysis, external validation
- Diagnostic model development
- Tenfold cross-validation
- Decision curve analysis
- External validation
Performance
As reported in the abstract
| Test or model | AUC | AUC in external validation |
|---|---|---|
| Model 1 | 0.918 | 0.833 |
| Model 0 | 0.896 | — not stated in the abstract |
AUC
Model 10.918
Model 00.896
AUC in external validation
Model 10.833
Model 0— not stated in the abstract
— not stated in the abstract
- Model 1 vs Model 0: P = 0.513
Further findings
| Outcome | HPP | ALPL-negative | P value |
|---|---|---|---|
| ALPHPP vs ALPL-negative | 27.0 (IQR 21.8–33.3) U/L | 36.00 (IQR 32.0–38.0) U/L | P < 0.001 |
| PLPHPP vs ALPL-negative | 214.3 (IQR 121.3–457.7) nmol/L | 42.6 (IQR 31.9–63.5) nmol/L | P < 0.001 |
Other characteristics and cutoffs
- Optimal alkaline phosphatase (ALP) cutoff
- 28.2 U/L
- Optimal PLP cutoff
- 114.9 nmol/L
- HPP: growth impairment, higher prevalence of chronic musculoskeletal pain and family history
- Compound heterozygotes and crown domain variants showed lower ALP and higher PLP
Original publication
Identification of hypophosphatasia in adults with persistent hypophosphatasemia: clinical-genetic characterization and a validated diagnostic tool. Osteoporos Int. Published 11 May 2026. doi:10.
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