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Clinical Practice Guidelines for Hypophosphatasia.

Toshimi Michigami1,2, Yasuhisa Ohata3,2, Makoto Fujiwara3,2

  • 1Department of Bone and Mineral Research, Research Institute, Osaka Women's and Children's Hospital, Osaka Prefectural Hospital Organization, Osaka, Japan.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology
|February 8, 2020
PubMed
Summary

Hypophosphatasia (HPP) is a rare genetic bone disorder. New clinical guidelines offer evidence-based recommendations for diagnosing and managing HPP, improving patient care.

Keywords:
enzyme replacement therapyguidelinehypophosphatasiasystematic review

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Area of Science:

  • Genetics and Endocrinology
  • Metabolic Bone Diseases

Background:

  • Hypophosphatasia (HPP) is a rare inherited disorder caused by mutations in the ALPL gene, affecting tissue-nonspecific alkaline phosphatase (TNSALP) activity.
  • Clinical manifestations of HPP vary widely, necessitating standardized diagnostic and management approaches.
  • Recent advancements in enzyme replacement therapy have improved outcomes for severe HPP cases.

Purpose of the Study:

  • To establish evidence-based clinical practice guidelines for Hypophosphatasia (HPP).
  • To provide physicians with standardized recommendations for HPP diagnosis and management.
  • To support clinical decision-making for patients with HPP.

Main Methods:

  • A task force formulated 21 clinical questions covering HPP diagnosis and management.
  • A systematic literature search was conducted using PubMed/MEDLINE to gather evidence.
  • Recommendations were developed based on the literature search and refined through expert review and public comment.

Main Results:

  • The guidelines address clinical manifestations, diagnosis, management, and treatment of HPP.
  • Evidence-based recommendations were formulated for 21 distinct clinical questions.
  • The guidelines were developed through a rigorous process involving a task force, literature review, and expert consensus.

Conclusions:

  • These clinical practice guidelines provide a standardized framework for HPP care.
  • The guidelines aim to improve the quality of medical care for HPP patients.
  • Regular revision and updates are anticipated to incorporate future advancements in HPP management.