ArticleArchives of endocrinology and metabolism2021
Active search of adult patients with persistently low serum alkaline phosphatase levels for the diagnosis of hypophosphatasia.
Article in Archives of endocrinology and metabolism, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 7 citations in OpenAlex.
- Persistently low serum alkaline phosphatase in adults: prevalence and clinical characteristics in a large tertiary care hospital.Orphanet journal of rare diseases · 2026Article
- Hypophosphatasia and Type 1 Diabetes: A Pilot Study and Review of Literature.Current osteoporosis reports · 2025Review
- Screening for Hypophosphatasia in Adult Patients at a Maximum Care Provider-Retrospective Analyses over Fifteen Years.Journal of clinical medicine · 2024Article
- Article
- Identifying adult hypophosphatasia in the rheumatology unit.Orphanet journal of rare diseases · 2022Article
- A Case of Hypophosphatasia With Normal Alkaline Phosphatase Levels.AACE clinical case reportsArticle
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveAlkaline phosphatase (ALP) is the main laboratory marker of hypophosphatasia (HPP), a rare disease unknown to most physicians. The prevalence of HPP has been widely discussed in the literature due to the diverse phenotypes of HPP. The purpose of this study was to search for patients with hypophosphatasemia based on previous biochemistry tests and reevaluate them to confirm the diagnosis of HPP.
methodsA total of 289,247 biochemical tests for ALP in adults were performed from 2015 to 2019 in two tertiary hospitals in Rio de Janeiro were reviewed (Clementino Fraga Filho University Hospital - HUCFF - and Bonsucesso Federal Hospital - BFH).
resultsA total of 1,049 patients were identified with ALP levels below 40 U/L, and 410 patients had hypophosphatasemia confirmed by at least two exams. After the active search of medical reports and/or interviews based on structured questionnaires, 398 subjects were excluded due to secondary causes of reduced ALP. The remaining 12 patients were invited to attend the medical consultation at HUCFF, accompanied by at least one first-degree relative. None of the patients or their relatives had a history or clinical manifestations consistent with HPP. Serum ALP was within reference values in all relatives, but persistently low in further laboratory evaluation in all the 12 patients, in whom secondary causes were ruled out. Thus, we cannot exclude the possibility that they might carry the mutations associated with HPP.
conclusionFurther image evaluations and genetic testing would be appropriate to confirm this asymptomatic adult form of HPP.
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