Abstract
Hypophosphatasia (HPP) is a rare inborn, metabolic bone disorder caused by mutations in the tissue-nonspecific alkaline phosphatase-encoding gene: ALPL. The diagnosis is based on biochemical, clinical and genetic evaluation. Low levels of alkaline phosphatase is a hallmark in diagnosing HPP. Mild forms may present unspecific symptoms and be more frequent than previously assumed. Adults with HPP may present with low bone mass, however, bisphosphonates are contra-indicated for these patients. Finally, enzyme replacement therapy has opened new therapeutic perspectives regarding severe HPP.
Translated title of the contribution | Diagnostics and treatment of hypophosphatasia |
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Original language | Danish |
Article number | V10170736 |
Journal | Ugeskrift for Laeger |
Volume | 180 |
Number of pages | 5 |
ISSN | 0041-5782 |
Publication status | Published - 2018 |