Hereditary and Familial Lymphedemas

Progress in identifying causal mutations has reshaped the way primary lymphedema is managed. Classifying primary lymphedema simply as congenital, praecox, or tarda is no longer adequate. Mutation testing is the way forward, but deep phenotyping is still needed to help discriminate different forms of primary lymphedema for which causal genes are still not known. A proposed algorithm can help with diagnosis. How best to approach those forms of primary lymphedema, which are familial, is presented.