Retrospective Study
Copyright ©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Nov 16, 2023; 11(32): 7785-7794
Published online Nov 16, 2023. doi: 10.12998/wjcc.v11.i32.7785
Adult-onset hypophosphatemic osteomalacia as a cause of widespread musculoskeletal pain: A retrospective case series of single center experience
Sungwon Kim, Sun Woong Kim, Byung Chan Lee, Du Hwan Kim, Duk Hyun Sung
Sungwon Kim, Department of Physical and Rehabilitation Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, South Korea
Sun Woong Kim, Department of Physical and Rehabilitation Medicine, Jungdap Hospital, Suwon 16480, South Korea
Byung Chan Lee, Physical Medicine and Rehabilitation, Chung-Ang University Hospital, Seoul 06973, South Korea
Du Hwan Kim, Physical Medicine and Rehabilitation, Chung-Ang University, Seoul 06973, South Korea
Duk Hyun Sung, Department of Physical and Rehabilitation Medicine, Samsung Medical Center, Seoul 06351, South Korea
Author contributions: Kim SW, Kim DH and Sung DH contributed to the conceptualization of this study; Kim S, Lee BC, and Kim SW involved in the investigation and data curation of this manuscript; Kim S and Kim SW wrote the original draft; Lee BC, Kim DH, and Sung DH participated to the writing - review & editing; and all authors have read and agreed to the published version of the manuscript.
Institutional review board statement: All procedures performed in this study involving human participants were in accordance with the ethical standards of the institutional review board and have therefore been performed in accordance with the ethical standards laid down in the 1964 Declaration of Helsinki and its subsequent amendments. This study was approved by the Institutional Review Board of Samsung Medical Center (approval number: 2020-09-027-001).
Informed consent statement: Informed consent was waived by the Institutional Review Board because of the retrospective nature of the study and the analysis used anonymous clinical data.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
Data sharing statement: The datasets generated for this study are available on request to the corresponding author.
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: Duk Hyun Sung, MD, PhD, Professor, Department of Physical and Rehabilitation Medicine, Samsung Medical Center, 81 Irwon-ro, Gangnam-gu, Seoul 06351, South Korea. yays.sung@samsung.com
Received: October 4, 2023
Peer-review started: October 4, 2023
First decision: October 9, 2023
Revised: October 14, 2023
Accepted: October 30, 2023
Article in press: October 30, 2023
Published online: November 16, 2023
Processing time: 42 Days and 20.4 Hours
ARTICLE HIGHLIGHTS
Research background

Adult-onset hypophosphatemic osteomalacia (OM) is a rare disorder primarily presenting with widespread musculoskeletal pain.

Research motivation

As the most common symptom of OM is widespread skeletal pain, it can be easily misdiagnosed as other musculoskeletal or rheumatic diseases.

Research objectives

This study aimed to facilitate the early diagnosis and etiology-specific treatment of adult-onset hypophosphatemic OM.

Research methods

This retrospective study included patients diagnosed with adult-onset hypophosphatemic OM at a single tertiary hospital between January 2011 and December 2019. Clinical features, diagnostic test results, treatments and prognosis of the patients were reviewed.

Research results

Eight patients with adult-onset hypophosphatemic OM were included, and five patients were misdiagnosed and treated for other diseases. Six patients were diagnosed with adefovir-induced Fanconi syndrome, and the other two patients were diagnosed with tumor-induced OM and light-chain nephropathy, respectively.

Research conclusions

Mechanical pain characteristics, hypophosphatemia, and distinctive bone scintigraphy patterns are the initial diagnostic indicators of adult-onset hypophosphatemic OM.

Research perspectives

Physicians should consider the possibility of adult-onset hypophosphatemic OM as a cause of widespread musculoskeletal pain because it is rare, but treatable disorder.