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

Autor:	González-Cejudo T; Clinical Analysis Unit, University Hospital Clínico San Cecilio, Granada, Spain.; Department of Medicine, University of Granada, Granada, Spain., Villa-Suárez JM; Clinical Analysis Unit, University Hospital Clínico San Cecilio, Granada, Spain., Ferrer-Millán M; Instituto de Investigación Biosanitaria de Granada (ibs. GRANADA), Granada, Spain., Andújar-Vera F; Department of Computer Science and Artificial Intelligence, University of Granada, Granada, Spain.; CIBER on Frailty and Healthy Aging (CIBERFES), Instituto de Salud Carlos III, Madrid, Spain.; Andalusian Research Institute in Data Science and Computational Intelligence (DaSCI Institute), Granada, Spain., Contreras-Bolívar V; Instituto de Investigación Biosanitaria de Granada (ibs. GRANADA), Granada, Spain.; Endocrinology and Nutrition Unit, University Hospital Clínico San Cecilio, Granada, Spain., Andreo-López MC; Endocrinology and Nutrition Unit, University Hospital Clínico San Cecilio, Granada, Spain., Gómez-Vida JM; Pediatric Unit, University Hospital Clínico San Cecilio, Granada, Spain., Martínez-Heredia L; Instituto de Investigación Biosanitaria de Granada (ibs. GRANADA), Granada, Spain., González-Salvatierra S; Instituto de Investigación Biosanitaria de Granada (ibs. GRANADA), Granada, Spain.; Department of Biochemistry and Molecular Biology II, Faculty of Pharmacy, University of Granada, Granada, Spain., de Haro Muñoz T; Clinical Analysis Unit, University Hospital Clínico San Cecilio, Granada, Spain., García-Fontana C; Instituto de Investigación Biosanitaria de Granada (ibs. GRANADA), Granada, Spain.; CIBER on Frailty and Healthy Aging (CIBERFES), Instituto de Salud Carlos III, Madrid, Spain.; Endocrinology and Nutrition Unit, University Hospital Clínico San Cecilio, Granada, Spain., Muñoz-Torres M; Department of Medicine, University of Granada, Granada, Spain.; Instituto de Investigación Biosanitaria de Granada (ibs. GRANADA), Granada, Spain.; CIBER on Frailty and Healthy Aging (CIBERFES), Instituto de Salud Carlos III, Madrid, Spain.; Endocrinology and Nutrition Unit, University Hospital Clínico San Cecilio, Granada, Spain., García-Fontana B; Instituto de Investigación Biosanitaria de Granada (ibs. GRANADA), Granada, Spain.; CIBER on Frailty and Healthy Aging (CIBERFES), Instituto de Salud Carlos III, Madrid, Spain.; Department of Cell Biology, University of Granada, Granada, Spain.
Jazyk:	angličtina
Zdroj:	Clinical chemistry and laboratory medicine [Clin Chem Lab Med] 2023 Jul 14; Vol. 62 (1), pp. 128-137. Date of Electronic Publication: 2023 Jul 14 (Print Publication: 2024).
DOI:	10.1515/cclm-2023-0427
Abstrakt:	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 of HPP, 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. (© 2023 the author(s), published by De Gruyter, Berlin/Boston.)
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu