Case Report
Copyright ©The Author(s) 2024. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Diabetes. Dec 15, 2024; 15(12): 2360-2369
Published online Dec 15, 2024. doi: 10.4239/wjd.v15.i12.2360
Peroxisome proliferator-activated receptor gamma mutation in familial partial lipodystrophy type three: A case report and review of literature
Chao-Jun Wu, Hao Liu, Li-Juan Tu, Jiong-Yu Hu
Chao-Jun Wu, Hao Liu, Basic Medical College, Army Medical University, Chongqing 400038, China
Li-Juan Tu, Jiong-Yu Hu, Department of Endocrinology, Rare Disease Center, The First Affiliated Hospital of Army Medical University, Chongqing 400038, China
Co-first authors: Chao-Jun Wu and Hao Liu.
Co-corresponding authors: Li-Juan Tu and Jiong-Yu Hu.
Author contributions: Wu CJ and Liu H contributed equally to manuscript writing and editing; Tu LJ and Hu JY, as corresponding authors, provided conceptual guidance and overall supervision; All authors reviewed and approved the final manuscript.
Informed consent statement: Informed verbal consent was obtained from the patient for publication of this case report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no conflict of interest.
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: Jiong-Yu Hu, MD, Associate Professor, Doctor, Department of Endocrinology, Rare Disease Center, The First Affiliated Hospital of Army Medical University, No. 30 Gaotanyan Street, Shapingba District, Chongqing 400038, China. jiongyu-hu@tmmu.edu.cn
Received: May 19, 2024
Revised: September 22, 2024
Accepted: October 23, 2024
Published online: December 15, 2024
Processing time: 182 Days and 13.2 Hours
Core Tip

Core Tip: This study reports a rare peroxisome proliferator-activated receptor gamma (PPARG) mutation (Y151C) in a 31-year-old woman with familial partial lipodystrophy type 3 (FPLD3), characterized by adipose tissue loss and metabolic complications. The mutation was identified in the PPARG DNA-binding domain. Pioglitazone, a PPARG agonist, effectively improved the patient’s glycemic and blood pressure control. This highlights the importance of genetic testing in FPLD3 diagnosis and the potential of PPARG agonists in managing metabolic complications.