Diagnostik og behandling af hypofosfatasi

Translated title of the contribution: Diagnostics and treatment of hypophosphatasia

Nicola Hepp, Anja Lisbeth Frederiksen, Jalda Khosravi, Jens Erik Beck Jensen

Research output: Contribution to journalReview articlepeer-review


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 contributionDiagnostics and treatment of hypophosphatasia
Original languageDanish
Article numberV10170736
JournalUgeskrift for laeger
Publication statusPublished - 27 Aug 2018
Externally publishedYes


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