@misc{10481/84723,
year = {2023},
month = {7},
url = {https://hdl.handle.net/10481/84723},
abstract = {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. A
new clinical algorithm to detect HPP-misdiagnosed cases was
used including the following steps: confirmation of persistent
hypophosphatasemia, exclusion of secondary causes of
hypophosphatasemia, determination of serum pyridoxal-
5′-phosphate (PLP) and genetic study of ALPL gene.
Results: Twenty-four subjects were selected to participate
in the study and genetic testing was carried out in 20 of them
following clinical algorithm criteria. Eighty percent of patients
was misdiagnosed with HPP following the current
standard clinical practice. Extrapolating these results to the
current Spanish population means that there could be up to
27,177 cases of undiagnosed HPP in Spain. In addition, we
found a substantial proportion of HPP patients affected by
other comorbidities, such as autoimmune diseases (∼40 %).
Conclusions: This new algorithm was effective in detecting
previously undiagnosed cases ofHPP, which appears to be twice
as prevalent as previously estimated for the European population.
In the near future, our algorithm could be globally applied
routinely in clinical practice to minimize the underdiagnosis of
HPP. Additionally, some relevant findings, such as the high
prevalence of autoimmune diseases in HPP-affected patients,
should be investigated to better characterize this disorder.},
organization = {Instituto
de Salud Carlos III grants PI21-01069 co-funded by the
European Regional Development Fund (FEDER) and by Junta
de Andalucía grant PI-0268-2019},
organization = {Operational Programme for Youth Employment of the Junta
de Andalucía with Ref: POEJ_04/2022-12},
organization = {Instituto de
Salud Carlos III with co-funding by FEDER (CD20/00022)},
organization = {(FI19/00118 and CM21/00221) from Instituto de Salud Carlos},
organization = {Postdoctoral fellowship from
the Junta de Andalucía (RH-0141-2020)},
publisher = {De Gruyter},
keywords = {Diagnostic algorithm},
keywords = {Hypophosphatasia},
keywords = {Prevalence},
keywords = {Rare diseases},
title = {Mild hypophosphatasia may be twice as prevalent as previously estimated: an effective clinical algorithm to detect undiagnosed cases},
doi = {10.1515/cclm-2023-0427},
author = {González Cejudo, Trinidad and Villa Suárez, Juan Miguel and Andujar Vera, Francisco and Contreras Bolívar, Victoria and Andreo López, Maria Carmen and Gómez Vida, José Maria and Martínez Heredia, Luis and González Salvatierra, Sheila and Haro Muñoz, Tomás de and García Fontana, Cristina and Muñoz Torres, Manuel Eduardo and García Fontana, Beatriz},
}