Management of combined venous and lymphatic malformations

Vascular malformations are congenital vessel malformations that include one or more venous, lymphatic, or arteriovenous defects. Klippel-Trenaunay syndrome occurs when there is a combination of venous and lymphatic malformations in the limbs; however, the definition is still controversial. The 2013 international venous malformation consensus established that Klippel-Trenaunay syndrome is a combination of venous malformations that involve the whole limb and lymphatic malformations. Although, if two venous malformations are present (eg, extratruncular and truncular), then a lymphatic malformation is not necessary to meet the definition for Klippel-Trenaunay syndrome. The classic triade of signs, ie, limb overgrowth, nevus and dilated superficial veins was not present in all cases of a patient series we analyzed (n=46). The diagnostic goal should be to recognize vascular malformations in individual patients. Investigations should involve the following (in the order presented): (i) a clinical examination; (ii) duplex scan to rules out arteriovenous malformations, study the morphology and flow in the veins, and establish flow in dysplastic peripheral vascular masses; (iii) MRI to confirm morphology of deep veins and determine the site of infiltrating malformations; and (iv) lymphoscintigraphy to identify the main deep and superficial lymphatic channels. Three treatment techniques-surgery, alcohol sclerotherapy of dysplastic vessels, and an interstitial or a superficial laser procedure-are available for Klippel-Trenaunay syndrome, which may be performed in stages and it may involve a combination of techniques. Significant improvement is possible if there is a complete diagnosis and correct treatment planning.