Hypophosphatasia in adolescents and adults: overview of diagnosis and treatment

On behalf of the Rare Bone Disease Action Group of the European Calcified Tissue Society

Research output: Contribution to journalReview articlepeer-review

Abstract

This article provides an overview of the current knowledge on hypophosphatasia—a rare genetic disease of very variable presentation and severity—with a special focus on adolescents and adults. It summarizes the available information on the many known mutations of tissue-nonspecific alkaline phosphatase (TNSALP), the epidemiology and clinical presentation of the disease in adolescents and adults, and the essential diagnostic clues. The last section reviews the therapeutic approaches, including recent reports on enzyme replacement therapy (EnzRT).

Original languageEnglish
Pages (from-to)1445-1460
Number of pages16
JournalOsteoporosis International
Volume31
Issue number8
DOIs
Publication statusPublished - Aug 1 2020

Keywords

  • Alkaline phosphatase
  • Bone
  • Fractures
  • Hypomineralization
  • Hypophosphatasia
  • Teeth

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism

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