Hemo-lymphatic malformation: Klippel-Trenaunay Syndrome

The majority of patients presenting with a hemolymphatic malformation (HLM) have a combined lesion consisting of a venous malformation (VM), lymphatic malformation (LM) and capillary malformation (CM), and is often known as Klippel-Trenaunay Syndrome (KTS). Occasionally the HLM has an additional vascular malformation component in addition to CM, VM and LM: arterio-venous malformation (AVM), known as Parkes-Weber Syndrome (PWS). Therefore, accurate diagnosis and management of HLM remains a challenge due to the complex combinations of extratruncular and truncular VM and LM lesions. Diagnosis should aim at the primary pathology first based on various combinations of non-to less invasive tests (e.g. Duplex ultrasonography, MRI and radionuclide lymphoscintigraphy). Selective invasive tests (e.g. arteriography, ascending or direct puncture phlebography) may be reserved for planning treatment especially when the AVM lesion is involved along with the HLM. Precise assessment of each vascular malformation component is essential in order to prioritize treatment among the different lesions and to allow appropriate treatment selection when therapy is indicated. Treatment of HLM in general aims at the underlying primary pathology first, especially for the correction of hemodynamic disturbances caused by the lesion, and then pursue to the secondary disorders. In order to improve the overall clinical management outcome, careful selection and implementation of additional treatment modalities, either surgical (e.g. marginal vein resection) or non-surgical (e.g. sclerotherapy), in addition to the basic conservative treatment regimen (e.g. compression therapy to LM), should be determined based on a consensus among a multidisciplinary team.