Primary lymphoedema and lymphatic malformation: are they the two sides of the same coin?

Abstract

To clear the confusion regarding the relationship between the 'primary lymphoedema' and (truncular) lymphatic malformation (LM); the latter is one of congenital vascular malformations. A literature review was carried out on the primary lymphoedema either existing as an independent LM lesion or as a component of the Klippel-Trenaunay syndrome. The review was able to provide a contemporary guide/conclusion on the definition and classification, clinical evaluation and clinical management regarding conservative (physical) therapy, reconstructive surgical therapy and ablative/excisional surgical therapy, for the primary lymphoedema as an LM. Primary lymphoedema can be considered as 'congenital' since its majority represents a clinical manifestation of the truncular type of LM arising during the later stages of lymphangiogenesis. Such embryological staging information of the LM is critical for proper management of the primary lymphoedema when it exists with other congenital vascular malformations (Klippel-Trenaunay syndrome). 2. Basic non-invasive to minimally invasive tests will provide an adequate diagnosis and lead to the correct multidisciplinary, specifically targeted and sequenced treatment strategy. 3. The mainstay of current management of the primary lymphoedema/truncular LM is complex decongestive therapy; and the reconstructive as well as ablative surgical therapy remain adjunctive therapies at best.