Klippel–Trénaunay syndrome: a case report of a rare vascular disorder identified in a rural Canadian hospital

Context: Klippel–Trénaunay syndrome (KTS) is a very rare congenital vascular anomaly. It is characterized by the presence of capillary malformation, venous malformation as well as limb overgrowth, generally affecting one extremity. Although clinical characteristics of KTS are well-known, the epidemiology and pathophysiology still remain to be defined. Awareness of these disorders is important for rural physicians for managing potential complications.

Issue: A 60-year-old male presented with symptomatic varicosities and chronic venous insufficiency of the left leg.  The patient had a history of several episodes of ulceration and thrombophlebitis on the left side. Physical examination revealed extensive varicosities and a large port-wine stain on the lateral side of the left leg, despite a previous ligation of the saphenofemoral junction. The left leg was also circumferentially larger than the right leg. Additional investigations were conducted to rule out arterial disorders and confirm the venous nature of the abnormalities. The patient was clinically diagnosed with KTS and his varicosities were treated surgically using phlebectomy with stab avulsion technique.

Lessons learned: KTS is a distinct entity which belongs to the group of vascular malformations. In a rural practice, identification and accurate diagnosis is challenging, as these patients often require a multidisciplinary approach and do not present until later in the course of the condition. An understanding of the correct nomenclature and associated complications is imperative for proper assessment and management in rural and remote settings.