Chen Junzhe, Wang Liangliang, Wu Xiangkui, Wu Bihua, Li Hai, Xiao Shune, Deng Chengliang
Department of Burns and Plastic Surgery, Affiliated Hospital of Zunyi Medical University, Zunyi, Guizhou, China.
The Collaborative Innovation Center of Tissue Damage Repair and Regeneration Medicine, Zunyi Medical University, Zunyi, Guizhou, China.
Front Genet. 2025 Jul 3;16:1560471. doi: 10.3389/fgene.2025.1560471. eCollection 2025.
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.
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.
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.
原发性淋巴水肿（PL）是一种慢性疾病，其特征是由于淋巴引流受损导致组织异常肿胀，进而导致脂肪组织沉积增加和纤维化。尽管已经鉴定出与PL相关的基因中的几种致病变体，但仍有相当数量的病例无法解释，这表明可能存在未发现的遗传联系。
本报告描述了在一名59岁的双上肢和双下肢均受PL影响的男性患者中鉴定出的PROX1基因的一种新型杂合突变（c.1019C>G，p.S340C），表明其在淋巴功能障碍中的潜在作用。一种综合治疗策略——对受影响较轻的上肢采用保守消肿治疗，同时对受影响严重的下肢采用保留穿支的根治性减容术（RRPP）和带血管蒂淋巴结转移术（VLNT）——使肢体周长、淋巴运输和整体生活质量得到了显著改善。
本报告强调了RRPP和SC-VLNT联合治疗晚期PL的疗效，并强调了在这种复杂疾病的管理中考虑遗传因素的重要性。
