Klippel Trenaunay Syndrome: A Brief Overview

Abstract

A B S T R A C TKlippel-Trenaunay syndrome is a rare congenital vascular disease. The pathogenesisof this syndrome is unclear, but it is thought that most cases are the result of somaticmutations that affect genes that play a role in vasculogenesis and angiogenesis. Somepatients come with a triad of capillary malformation (hemangioma or port-wine stain),venous varicosities and bony or soft tissue hypertrophy. Clinical presentation of thissyndrome can lead to significant morbidities and mortalities due to severe bleedingand emboli. Although the number of cases is low, a doctor must be able to distinguishKlippel-Trenaunay Syndrome from other rare vascular disorders. Parkes Webersyndrome is usually similar to Klippel-Trenaunay syndrome, except in the arterialmalformations associated with capillary malformations and soft tissue to skeletal orbone hypertrophy. The diagnosis of Klippel-Trenaunay Syndrome is carried outclinically and is quite difficult to do even with experienced doctors because there is noprecise pathognomonic test. There are several options in relation to the managementof Klippel-Trenaunay Syndrome and non-invasive procedure is considered to be themost important of therapy modalities. Early diagnoses, progression monitoring, andproper intervention should be carried out for better prognosis and preventingcomplication.