CASE REPORT article
Front. Genet.
Sec. Genetics of Common and Rare Diseases
Volume 16 - 2025 | doi: 10.3389/fgene.2025.1560471
Case Report: Surgical Management of Primary Lymphedema with a Novel PROX1 Mutation Involving Upper and Lower Limbs
Provisionally accepted
- 1Affiliated Hospital of Zunyi Medical University, Zunyi, China
- 2Collaborative Innovation Center of Tissue Repair and Regenerative Medicine, zunyi, China
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Background: Primary lymphedema (PL) is a chronic condition characterized by abnormal swelling of tissues due to impaired lymphatic drainage, leading to increased deposition of adipose tissue and fibrosis. Although several pathogenic variants in genes associated with PL have been identified, a significant number of cases remain unexplained, suggesting the possibility of undiscovered genetic links.Case presentation: This report describes a novel heterozygous mutation in the PROX1 gene (c.1019C>G, p.S340C) identified in a 59-year-old male patient with PL affecting both upper and lower extremities, indicating its potential role in lymphatic dysfunction. A comprehensive treatment strategy-combining conservative decongestive therapy for the less severely affected upper limb with radical reduction while preserving perforators (RRPP) and vascularized lymph node transfer (VLNT) for the severely affected lower limb-resulted in significant improvements in limb circumference, lymphatic transport, and overall quality of life.Conclusion: This report highlights the efficacy of combining RRPP and SC-VLNT in treating advanced-stage PL and emphasizes the importance of considering genetic factors in the management of this complex disease.
Keywords: Primary lymphedema, Whole-exome sequencing, Prox1, Surgery, case report
Received: 14 Jan 2025; Accepted: 24 Jun 2025.
Copyright: © 2025 Chen, Wang, Wu, Wu, Li, Xiao and Deng. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Chengliang Deng, Affiliated Hospital of Zunyi Medical University, Zunyi, China
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