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Could Alerting Physicians for Low Alkaline Phosphatase Levels Be Helpful in Early Diagnosis of Hypophosphatasia?

OBJECTIVE: Hypophosphatasia (HPP) is an inborn error of metabolism with significant morbidity and mortality. Its presentation is nonspecific leading to delayed or missed diagnosis. Low alkaline phosphatase (ALP) is a diagnostic test. Unlike high ALP, low level is commonly not flagged by laboratories...

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Autores principales: Deeb, Asma, Elfatih, Abubaker
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5838368/
https://www.ncbi.nlm.nih.gov/pubmed/28766503
http://dx.doi.org/10.4274/jcrpe.4426
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author Deeb, Asma
Elfatih, Abubaker
author_facet Deeb, Asma
Elfatih, Abubaker
author_sort Deeb, Asma
collection PubMed
description OBJECTIVE: Hypophosphatasia (HPP) is an inborn error of metabolism with significant morbidity and mortality. Its presentation is nonspecific leading to delayed or missed diagnosis. Low alkaline phosphatase (ALP) is a diagnostic test. Unlike high ALP, low level is commonly not flagged by laboratories as abnormal. A new treatment was shown to be effective in HPP. In this study we aimed to establish the frequency of low ALP levels requiring notification to physicians by the laboratory and also to describe the clinical manifestations of patients presenting with low ALP for a possible diagnosis of HPP. METHODS: Patients under age 18 years with low ALP levels were identified from biochemistry records over a period of 6 months. Reference ranges were used as per the Associated Regional and University Pathologists Reference Laboratory (Utah, USA). Electronic results for patients with low levels were checked for flagging as abnormal/low ALP results. Charts of identified patients were reviewed. Presenting features were categorized under groups of disorders. RESULTS: ALP levels were tested in 2890 patients. 702 had values less than 160 U/L. Of these patients, 226 (32%) had age/gender specific low ALP. None of the low ALP results was flagged as low. Twenty-one had more than one low reading and their charts were reviewed. Four patients in the neuromuscular and four in the miscellaneous group presented with features consistent with HPP despite these patients having no specific diagnoses. CONCLUSION: Laboratories do not alert physicians in cases with low ALP levels. A persistently low level in patients with unspecified diagnoses could be a key to diagnose HPP. Implementing lab-specific ranges and alerting for low levels could prompt physicians to investigate for undiagnosed HPP.
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spelling pubmed-58383682018-03-08 Could Alerting Physicians for Low Alkaline Phosphatase Levels Be Helpful in Early Diagnosis of Hypophosphatasia? Deeb, Asma Elfatih, Abubaker J Clin Res Pediatr Endocrinol Original Article OBJECTIVE: Hypophosphatasia (HPP) is an inborn error of metabolism with significant morbidity and mortality. Its presentation is nonspecific leading to delayed or missed diagnosis. Low alkaline phosphatase (ALP) is a diagnostic test. Unlike high ALP, low level is commonly not flagged by laboratories as abnormal. A new treatment was shown to be effective in HPP. In this study we aimed to establish the frequency of low ALP levels requiring notification to physicians by the laboratory and also to describe the clinical manifestations of patients presenting with low ALP for a possible diagnosis of HPP. METHODS: Patients under age 18 years with low ALP levels were identified from biochemistry records over a period of 6 months. Reference ranges were used as per the Associated Regional and University Pathologists Reference Laboratory (Utah, USA). Electronic results for patients with low levels were checked for flagging as abnormal/low ALP results. Charts of identified patients were reviewed. Presenting features were categorized under groups of disorders. RESULTS: ALP levels were tested in 2890 patients. 702 had values less than 160 U/L. Of these patients, 226 (32%) had age/gender specific low ALP. None of the low ALP results was flagged as low. Twenty-one had more than one low reading and their charts were reviewed. Four patients in the neuromuscular and four in the miscellaneous group presented with features consistent with HPP despite these patients having no specific diagnoses. CONCLUSION: Laboratories do not alert physicians in cases with low ALP levels. A persistently low level in patients with unspecified diagnoses could be a key to diagnose HPP. Implementing lab-specific ranges and alerting for low levels could prompt physicians to investigate for undiagnosed HPP. Galenos Publishing 2018-03 2018-02-26 /pmc/articles/PMC5838368/ /pubmed/28766503 http://dx.doi.org/10.4274/jcrpe.4426 Text en © Copyright 2018, Journal of Clinical Research in Pediatric Endocrinology, Published by Galenos Publishing. http://creativecommons.org/licenses/by/2.5/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Article
Deeb, Asma
Elfatih, Abubaker
Could Alerting Physicians for Low Alkaline Phosphatase Levels Be Helpful in Early Diagnosis of Hypophosphatasia?
title Could Alerting Physicians for Low Alkaline Phosphatase Levels Be Helpful in Early Diagnosis of Hypophosphatasia?
title_full Could Alerting Physicians for Low Alkaline Phosphatase Levels Be Helpful in Early Diagnosis of Hypophosphatasia?
title_fullStr Could Alerting Physicians for Low Alkaline Phosphatase Levels Be Helpful in Early Diagnosis of Hypophosphatasia?
title_full_unstemmed Could Alerting Physicians for Low Alkaline Phosphatase Levels Be Helpful in Early Diagnosis of Hypophosphatasia?
title_short Could Alerting Physicians for Low Alkaline Phosphatase Levels Be Helpful in Early Diagnosis of Hypophosphatasia?
title_sort could alerting physicians for low alkaline phosphatase levels be helpful in early diagnosis of hypophosphatasia?
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5838368/
https://www.ncbi.nlm.nih.gov/pubmed/28766503
http://dx.doi.org/10.4274/jcrpe.4426
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