Volume 9, Issue 4 (11-2022)                   JROS 2022, 9(4): 187-196 | Back to browse issues page


XML Print


Download citation:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:

Shams R, Zabihiyeganeh M, Aminian A, Sarikhani M. Advancements in Understanding and Managing Hypophosphatasia: From Clinical Spectrum and Diagnosis to Therapeutic Strategies. JROS 2022; 9 (4) :187-196
URL: http://jros.iums.ac.ir/article-1-2232-en.html
1- Department of Orthopedics, Bone and Joint Reconstruction Research Center, School of Medicine, Iran University of Medical Sciences, Tehran, Iran.
Abstract:   (106 Views)
Background: Hypophosphatasia (HPP) is a rare, inherited metabolic disorder caused by mutations in the gene responsible for producing the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). The clinical spectrum of HPP ranges from severe, life-threatening forms in infants to milder forms in adults, primarily affecting dental health and bone integrity.
Objectives: This review aims to summarize the clinical manifestations and genetic underpinnings of HPP, discuss the diagnostic methodologies used to identify HPP and, highlight the therapeutic interventions available, with a focus on recent advancements. 
Results: The review synthesizes information from clinical observations, radiographic findings, laboratory tests, and genetic screenings. It also evaluates recent literature on the pathophysiology and treatment of HPP, particularly the use of Asfotase alfa.
Discussion and Conclusion: Despite the existence of clear clinical markers, HPP often remains unrecognized for extended periods. Treatments like Asfotase alfa have significantly improved outcomes for severe cases in infants, children, and adults. However, questions about the optimal duration of treatment remain. Recent advancements have enhanced the understanding of HPP’s pathophysiology, particularly the role of persistently low serum alkaline phosphatase (AP) levels. Increased vigilance among healthcare professionals, including dentists, orthopedic surgeons, and rheumatologists, is crucial for timely diagnosis and management of HPP. The past decade has seen significant progress in understanding and treating HPP, offering new avenues for its management. This review encapsulates these advancements, providing a comprehensive overview of the evolving comprehension and approach towards this complex metabolic disorder.
Full-Text [PDF 602 kb]   (38 Downloads) |   |   Full-Text (HTML)  (35 Views)  
Type of Study: Review Paper | Subject: Rheumatology
Received: 2022/02/25 | Accepted: 2022/03/25 | Published: 2022/11/1

Add your comments about this article : Your username or Email:
CAPTCHA

Rights and permissions
Creative Commons License This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

© 2024 CC BY-NC 4.0 | Journal of Research in Orthopedic Science

Designed & Developed by : Yektaweb