Current Research into the Pathogenesis and Treatment Prospects for Primary Lymphedema

Dear Colleagues,

Primary lymphedema (PL) is a chronic disabling condition that results in the swelling of the extremities due to altered lymphatic flow. It is more frequent in the lower limbs but can also affect the arms, face and genitalia. Patients are susceptible to recurrent local infections and physical impairment. The disorder can appear at birth or later in life, may be familial or sporadic, and may manifest as an isolated trait or as part of a syndrome. There is always a genetic cause, which may have Mendelian inheritance. Today, we know that mutations in most of the genes involved in the regulation of lymphangiogenesis can lead to lymphedema. Since a genetic diagnosis can only be reached in 15–20% of patients, we clearly do not know all the genes that govern the disorder and our understanding of its molecular pathogenesis is still far from complete. This phenotypic and genetic heterogeneity has made treatment difficult, especially gene therapy. Indeed, the few research studies in the literature are nearly all pre-clinical.

Basic research, aimed at understanding the genetic-molecular mechanisms of the disease, is essential for timely diagnosis and the development of targeted therapies that could offer hope to patients with this incapacitating disease.

For this Special Issue, we are calling for reviews, mini-reviews and research articles focusing on the wider aspects of lymphedema genetics, from pathogenic mechanisms to new therapeutic approaches, including genetic epidemiology, genetic screening, case reports and case series that make a substantial contribution to the literature, as well as experimental studies on new treatments.

Dr. Paolo Enrico Maltese
Guest Editor

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