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Article

Detection of hypophosphatasia in hospitalised adults in rheumatology and internal medicine departments: a multicentre study over 10 years.

RMD open - 4 Apr 2024

Larid Guillaume, Vix Justine, Preuss Pauline, Robin François, Tison Alice, Delaveau Clémentine, Krajewski Faustine, Bouvard Béatrice, Chu Miow Lin Delphine, Guggenbuhl Pascal, Maugars Yves, Saraux Alain, Debiais Francoise

Abstract excerpt

INTRODUCTION: Hypophosphatasia (HPP) is a rare genetic disease caused by loss-of-function mutations in the ALPL gene encoding the tissue non-specific alkaline phosphatase (ALP). Mild HPP is usually misdiagnosed in adult age. While an elevated serum ALP value draws more attention than a low value, low serum ALP should be better recognised and may lead to HPP detection. METHODS: Patients were selected from the...

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PMID: 38580346
DOI: 10.1136/rmdopen-2024-004316
PMCID: PMC11002352

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