Wu CJ, Liu H, Tu LJ, Hu JY. Peroxisome proliferator-activated receptor gamma mutation in familial partial lipodystrophy type three: A case report and review of literature. World J Diabetes 2024; 15(12): 2360-2369 [DOI: 10.4239/wjd.v15.i12.2360]
Corresponding Author of This Article
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
Research Domain of This Article
Medicine, General & Internal
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (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: http://creativecommons.org/licenses/by-nc/4.0/
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
Abstract
BACKGROUND
Familial partial lipodystrophy disease (FPLD) is a collection of rare genetic diseases featuring partial loss of adipose tissue. However, metabolic difficulties, such as severe insulin resistance, diabetes, hypertriglyceridemia, and hypertension frequently occur alongside adipose tissue loss, making it susceptible to misdiagnosis and delaying effective treatment. Numerous genes are implicated in the occurrence of FPLD, and genetic testing has been for conditions linked to single gene mutation related to FPLD. Reviewing recent reports, treatment of the disease is limited to preventing and improving complications in patients.
CASE SUMMARY
In 2017, a 31-year-old woman with diabetes, hypertension and hypertriglyceridemia was hospitalized. We identified a mutation in her peroxisome proliferator-activated receptor gamma (PPARG) gene, Y151C (p.Tyr151Cys), which results in a nucleotide substitution residue 452 in the DNA-binding domain (DBD) of PPARG. The unaffected family member did not carry this mutation. Pioglitazone, a PPARG agonist, improved the patient’s responsiveness to hypoglycemic and antihypertensive therapy. After one year of treatment in our hospital, the fasting blood glucose and glycosylated hemoglobin of the patient were close to normal.
CONCLUSION
We report a rare PPARG mutation, Y151C, which is located in the DBD of PPARG and leads to FPLD, and the preferred agent is PPARG agonists. We then summarized clinical phenotypic characteristics of FPLD3 caused by PPARG gene mutations, and clarified the relationship between different mutations of PPARG gene and the clinical manifestations of this type of FPLD. Additionally, current treatments for FPLD caused by PPARG mutations are reviewed.
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.
