Molecular Research on Lymphedema

Dear Colleagues,

Lymphedema is a dysfunction of the lymphatic system, a disorder characterized by abnormal swelling of one or more extremities due to impaired transport of the lymph. This common and debilitating condition affects millions of people worldwide. Lymphedema can be primary (congenital) or secondary (acquired). The prevalence of primary lymphedema (PL) has been estimated at 1–5 per 10,000 persons. More than 10 Mendelian forms are known, of which three are considered the major forms: Milroy disease, lymphedema-distichiasis, and Meige disease. Mutations in several genes are now recognized to cause PL and have been estimated to account for the etiology of 40% of familial lymphedema. Although the number of patients with genetic diagnosis is increasing, many cases of primary lymphedema remain unexplained, underlining further genetic-locus heterogeneity. To date, lymphedema lacks drug treatments, likely because of the poor understanding of the lymphatic system and of the molecular mechanisms undepinning the disease onset.

This Special Issue on “Molecular Research on Lymphedema” will comprise a selection of original research papers and reviews focusing on, but not limited to, novel findings on the molecular players and mechanisms involved in the pathophysiology of primary lymphedema. This will include experimental studies in animal models and innovative cellular models (e.g., iPSCs), also exposed to specific factors or therapeutic treatments. Novel diagnostic tools and genetic strategies examining new genes involved in the onset of lymphedema are also welcome.

Prof. Dr. Daniela Tavian
Guest Editor

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