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Review
. 2017 May-Aug;14(2):230-234.
doi: 10.11138/ccmbm/2017.14.1.230. Epub 2017 Oct 25.

Hypophosphatasia: clinical manifestation and burden of disease in adult patients

Francesco Conti  1 , Lorenzo Ciullini  1 , Giuseppe Pugliese  1
Affiliations
Review

Hypophosphatasia: clinical manifestation and burden of disease in adult patients

Francesco Conti et al. Clin Cases Miner Bone Metab. 2017 May-Aug.

Abstract

Hypophosphatasia (HPP) is a rare inherited disease with a heterogeneous clinical expression. The adult form of HPP is often difficult to be recognized with a delayed diagnosis and inappropriate treatments. Though severity of HPP decreases with age at onset, important complications could occur at any age and the burden of HPP among adult patients is found to be significant. Adult patients with HPP suffer of chronic pain, recurrent fractures and other orthopedics problems, with severe disability that have a serious negative impact on all aspects of their life. The aim of this paper is to summarize the main aspects of HPP in adult patients reviewing the literature and focusing on its burden for patients suffering from this condition.

Keywords: adult form; alkaline phosphatase; bone; diagnosis; fractures; hypophosphatasia.

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