Study identifies Foxo1 gene as a potential treatment target for hereditary lymphedema


A University of South Florida (USF Health) preclinical study unexpectedly identified the gene Foxo1 as a potential treatment target for hereditary lymphedema. The research, published July 15 in The Journal of Clinical Investigation, was done with colleagues from Tulane University and the University of Missouri.

Lymphedema — a chronic condition in which lymphatic (lymph) fluid accumulates in soft tissue under the skin, usually in the arms and legs — causes minor to painfully disfiguring swelling. Primary, or hereditary, lymphedema is rare, present at birth and caused in part by genetic mutations that regulate normal lymphatic valve development. Secondary, or acquired, lymphedema is caused by damage to the lymphatic system from surgery, radiation therapy, trauma, or parasitic infection. In the U.S., lymphedema most commonly affects breast cancer patients, with prevalence ranging from 10 to 40% after lymph node removal and radiation therapy.

While lymphedema can be managed with massage and compression garments, no treatment exists to address its underlying cause: the build-up of fluid that eventually backs up in the lymph system like an overflowing sink with a blocked drain. This stagnant lymph triggers an inflammatory response that can induce connective and fatty tissue to form and harden the skin, restricting movement and increasing the risk of recurrent infections.

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