Chronic systemic capillary leak syndrome with lymphatic capillaries involvement and MYOF mutation: case report and literature review

Dehua Gao; Wen Zhong; Weiru Zhang; Xuan Wang; Weiping Li; Jun Liu

doi:10.3389/fgene.2023.1282711

Chronic systemic capillary leak syndrome with lymphatic capillaries involvement and MYOF mutation: case report and literature review

Front Genet. 2023 Nov 20:14:1282711. doi: 10.3389/fgene.2023.1282711. eCollection 2023.

Authors

Dehua Gao¹, Wen Zhong¹, Weiru Zhang¹, Xuan Wang¹, Weiping Li¹, Jun Liu¹

Affiliation

¹ Department of General Medicine, Xiangya Hospital, Central South University, Changsha, China.

Abstract

Introduction: Idiopathic systemic capillary leak syndrome (SCLS) is a rare disorder characterized by hemoconcentration, hypoproteinemia and edema. Chronic SCLS (cSCLS) presents as intractable edema, distinguishing it from the classic acute form, and only about 10 cases were reported worldwide. Nevertheless, the underlying pathogenesis of both types is obscure. Case presentation: We report a case of a 58-year-old man with chronic edema persisting for 8 years, complicated by unique chylous polyserous effusions and hypotrichosis, which was successfully relieved by treatment with dexamethasone, intravenous immunoglobulin, and thalidomide. Furthermore, a variant c.5594A>G (p.K1865R) in the MYOF gene was identified as a potentially pathogenic mutation through whole-exome genetic sequencing. The proposed mechanism involves its impact on VEGF signaling, leading to increased capillary permeability. Conclusion: Our case illustrates possible lymphatic capillaries involvement in SCLS, which may plays a potential role in immune disorder, and revealed a possible causative genetic mutation of SCLS.

Keywords: MYOF gene variant; VEGF; chronic systemic capillary leak syndrome; chylous polyserous effusions; edema; hypotrichosis; lymphatic capillaries.

Publication types

Case Reports

Grants and funding

The author(s) declare financial support was received for the research, authorship, and/or publication of this article. This work is supported by the Science and Health Collaboration Fund Project of Natural Science Foundation of Hunan province (Grant No. S2022JJKWLH0302 of JL), the Natural Science Foundation of Hunan province (Grant Nos. 2022JJ40846 of WnZ, and 2023JJ30973 of WiZ), the Graduate Education and Teaching Reform Project of Central South University (Grant No. 2022JGB019 of WiZ). The Science and Health Collaboration Fund Project of Natural Science Foundation of Hunan province (Grant No. S2022JJKWLH0302 of JL) and the Natural Science Foundation of Hunan province (2022JJ40846 of WnZ) has supported literature searches, article publication. The Natural Science Foundation of Hunan province (2023JJ30973 of WiZ) and the Graduate Education and Teaching Reform Project of Central South University (Grant No. 2022JGB019 of WiZ) has supported data collation.