Dysfunction of dermal initial lymphatics of the arm and upper body quadrant causes congenital arm lymphedema

Ningfei Liu, Minzhe Gao, Ziyou Yu
Journal of Vascular Surgery. Venous and Lymphatic Disorders 2020 June 26

OBJECTIVES: To explore the pathology underlying primary lymphedema.

METHODS: Twenty-seven patients with unilateral congenital arm lymphedema who visited our clinic from 1 January 2014 to 30 May 2019 were enrolled. The patients' clinical signs, indocyanine green (ICG) lymphography, skin tissue immunohistochemical (IHC) staining, and whole-exome sequencing (WES) of tissue and blood were evaluated.

RESULTS: Among the 27 patients, 18 and 9 were diagnosed with stage II and III lymphedema, respectively. No lymphatic vessels were visualized in the affected arm in 25 of 27(93%) patients who underwent ICG lymphography; likewise, no lymphatics were found in the territories of axillary lymph node drainage in the trunk, irrespective of any anomalies of the axillary lymph nodes. In only two (7%) patients, an unclear lymphatic trunk gradually appeared in the dorsum of the affected hand. The number of initial lymphatics was increased in the skin specimens of all nine patients in whom lymphatics were not demonstrated by ICG. Among 14 tested patients, we found compound heterozygote variants in the PIEZO1 gene in only 1 (7%) patient. Two missense variants, c.4072C>T; p.Arg1358Cys and c.5033C>T; p. Ala1678Val, were identified and found to have been inherited from the father and mother, respectively. No other pathogenic or likely pathogenic variants of currently known lymphedema-related genes were identified in the remaining 13 patients. No genetic difference was found between the lymphedematous and non-edema healthy skin tissue of the same person.

CONCLUSION: Segmental/regional dysfunction of the dermal initial lymphatics causes congenital arm lymphedema and may have implications for clinical treatment.

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