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©The Author(s) 2025. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Jul 26, 2025; 13(21): 103642
Published online Jul 26, 2025. doi: 10.12998/wjcc.v13.i21.103642
Published online Jul 26, 2025. doi: 10.12998/wjcc.v13.i21.103642
Hypophosphatasia: A case report
Angad Singh Gill, Pallavi Sharma, Mahmoud Nassar, Department of Medicine, Division of Endocrinology, Diabetes and Metabolism, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, Buffalo, NY 14221, United States
Angad Singh Gill, Pallavi Sharma, Mahmoud Nassar, Erlin Marte, Department of Research, American Society for Inclusion, Diversity, and Equity in Healthcare, Lewes, DE 19958, United States
Erlin Marte, Department of Endocrinology, Buffalo Veterans Affairs Medical Center, Buffalo, NY 14215, United States
Author contributions: Gill AS, Sharma P, Nassar M, Marte E contributed equally to the conception, research, drafting, and critical revision of the work, and approved the final version to be published. They agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.
Informed consent statement: Obtained from the patient.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Mahmoud Nassar, MD, PhD, Postdoctoral Fellow, Department of Research, American Society for Inclusion, Diversity, and Equity in Healthcare, 705 Maple Road, Lewes, NY 19958, United States. nassarma@asidehealthcare.org
Received: November 26, 2024
Revised: January 28, 2025
Accepted: March 27, 2025
Published online: July 26, 2025
Processing time: 152 Days and 16.1 Hours
Revised: January 28, 2025
Accepted: March 27, 2025
Published online: July 26, 2025
Processing time: 152 Days and 16.1 Hours
Core Tip
Core Tip: This case report highlights the importance of considering hypophosphatasia (HPP) in patients with unexplained bone pain and low alkaline phosphatase levels, especially in the presence of osteopenia or osteoporosis. It underscores the role of genetic testing and counseling in diagnosing and managing HPP, emphasizing early identification and treatment to improve patient outcomes. The report also illustrates how HPP can explain multiple symptoms often misdiagnosed as conditions like fibromyalgia. Additionally, it aims to raise awareness about enzyme replacement therapies that can significantly improve quality of life and reduce complications for HPP patients.