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Mild hypophosphatasia may be twice as prevalent as previously estimated: an effective clinical algorithm to detect undiagnosed cases.

Clinical chemistry and laboratory medicine - 26 Jan 2024

González-Cejudo Trinidad, Villa-Suárez Juan Miguel, Ferrer-Millán María, Andújar-Vera Francisco, Contreras-Bolívar Victoria, Andreo-López María Carmen, Gómez-Vida José María, Martínez-Heredia Luis, González-Salvatierra Sheila, de Haro Muñoz Tomás, García-Fontana Cristina, Muñoz-Torres Manuel, García-Fontana Beatriz

Abstract excerpt

OBJECTIVES: Since the prevalence of hypophosphatasia (HPP), a rare genetic disease, seems to be underestimated in clinical practice, in this study, a new diagnostic algorithm to identify missed cases of HPP was developed and implemented. METHODS: Analytical determinations recorded in the Clinical Analysis Unit of the Hospital Universitario Clínico San Cecilio in the period June 2018 - December 2020 were reviewed....

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PMID: 37440753
DOI: 10.1515/cclm-2023-0427

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ALPL

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