ArticleOsteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA2026
External validation of the proposed diagnostic criteria for hypophosphatasia in adults of a Spanish cohort.
Article in Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
We evaluated hypophosphatasia diagnostic criteria in adults with low alkaline phosphatase levels and a positive versus negative ALPL genetic test. Performance was optimal with biochemical and genetic data. Without them, sensitivity decreased, though specificity remained. Clinical features alone showed limited discriminative value. PURPOSE: To facilitate early diagnosis of hypophosphatasia (HPP), an international expert group recently proposed standardized diagnostic criteria. This study evaluated the validity and diagnostic utility of the proposed criteria in adults, including scenarios with limited access to tissue-non-specific alkaline phosphatase (TNSALP) substrates and/or genetic assessment.
methodsCriteria were applied in adults with persistently low alkaline phosphatase levels (ALP) and a positive genetic test (+ GT) confirming HPP versus those with a negative test (-GT). Diagnostic performance was evaluated by sensitivity, specificity, predictive values and area under the ROC curve (AUC).
resultsEighty-three adults were included (47 + GT, 36 -GT). Among + GT individuals, 97.9% met the diagnostic criteria (95.7%, two major; 44.7%, one major and two minor criteria) versus 2.8% of -GT. The two-major criteria arm showed sensitivity of 95.7% and specificity of 100%. The one-major plus two-minor arm had lower sensitivity (44.7%) but high specificity (97.2%). Most discriminative variables were chronic musculoskeletal pain, early tooth loss, and chondrocalcinosis. The criterion based on elevated substrates showed high sensitivity (97.9%) but low specificity (33.3%). In the + GT group, without genetic testing, 51.1% met the criteria (AUC 0.741); without substrate data, 44.7% (AUC 0.71), and with only clinical features, 6.4% (AUC 0.532).
conclusionHPP 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.
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