Genetic Evaluation for Primary Lymphedema

Lymphedema is caused by the abnormal development of lymphatic system, trauma, injury, surgery or toxic damage. It is classified as primary or secondary when it is congenital or acquired, respectively. Primary lymphedema can be isolated or a manifestation of a syndromic disorder. Currently, more than 20 genes have been suggested to be associated or responsible for primary lymphedema. In this review, the clinical manifestations of syndromic or isolated primary lymphedema are described with their causative genetic defects.