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Current Rheumatology Reports

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01-11-2018 | Orphan Diseases (Bernhard Manger, Section Editor)

Hypophosphatasia: From Diagnosis to Treatment

Authors: Sebastian Simon, Heinrich Resch, Klaus Klaushofer, Paul Roschger, Jochen Zwerina, Roland Kocijan

Published in: Current Rheumatology Reports | Issue 11/2018

Abstract

Purpose of Review

Hypophosphatasia (HPP) is a rare genetic disorder caused by mutations of the ALPL gene. ALPL encodes the tissue-non-specific isoenzyme of alkaline phosphatase (TNSALP). Consequently, bone mineralization is decreased leading to fractures, arthralgia, and extra-skeletal manifestations including tissue calcification, respiratory failure, and neurological complications. This review summarizes the most important clinical findings, diagnosis, and treatment options for HPP.

Recent Findings

Asfotase alfa is a recombinant human alkaline phosphatase, used as treatment for the underlying cause of HPP. Asfotase alfa enhances the survival in life-threatening HPP and improves bone mineralization, muscle strength, and pulmonary function. However, discontinuation of asfotase alfa leads to reappearance of bone hypomineralization.

Summary

Due to its varied manifestations, HPP often mimics rheumatological and other bone diseases, thereby delaying its diagnosis. Asfotase alfa, a recombinant alkaline phosphatase, is available for the long-term enzyme replacement therapy in patients with pediatric-onset HPP to treat the bone manifestations of the disease.

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Title: Hypophosphatasia: From Diagnosis to Treatment
Authors: Sebastian Simon
Heinrich Resch
Klaus Klaushofer
Paul Roschger
Jochen Zwerina
Roland Kocijan
Publication date: 01-11-2018
Publisher: Springer US
Published in: Current Rheumatology Reports / Issue 11/2018
Print ISSN: 1523-3774
Electronic ISSN: 1534-6307
DOI: https://doi.org/10.1007/s11926-018-0778-5

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