Klippel - Trenaunay Syndrome

Introduction

Varicose veins are dilated and tortuous superficial veins, especially of the lower extremities. Over the age of 45, varicose veins are three times more common in women than in men (20% vs 7%). Primary varicose veins result from the combination of constitutionally defective valves, postural strains or from congenital absence of the valves or absence of deep venous system. Klippel - Trenaunay syndrome is one such presentation of primary varicose veins [1].

Case Report

A 24 year old male presented with history of pain, gradually increasing swelling, progressive dilatation and tortuosity of the veins of the right lower limb since childhood and nonhealing ulcers over the right leg for last four to five years.

On examination, there was dilatation and tortuosity of the superficial veins of the right lower limb. Changes secondary to varicosities in form of venous ulcers and pigmentation were also seen.

Colour Doppler imaging of the limb revealed complete absence of the deep venous system of the right lower limb with hypertrophy and increased flow through the superficial venous system. A small venous channel was visualized near the aortic bifurcation which could represent hypoplastic right iliac vein.

A venogram of the affected limb was performed which confirmed these findings in form of absence of the deep venous system and hypertrophy of the superficial veins. The rudimentary vascular channel representing hypoplastic right iliac vein was also visualized. This was a variant of Klippel-Trenaunay syndrome.

Discussion

Klippel-Trenaunay syndrome (also known as nevus vasculosus steohypertrophicus) is a sporadic nonhereditary rare mesodermal abnormality that usually affects a single lower limb. It is characterized by a triad of : 1) haemangioma generally of the nevus flammeus type, 2) varicose veins, and 3) hypertrophy of the soft tissue and bones of the affected limb. Klippel and Trenaunay described the association of the three findings in 1900. Later, Parke Weber independently described a number of similar cases and added important findings of arteriovenous fistulas [2]. Although some authors (Lindenauer, 1962) prefer to separate cases without arteriovenous fistulas (Klippel-Trenaunay syndrome) from those cases with such fistulas (Parke Weber syndrome), it would appear more useful to consider all such cases under the broad eponym of the Klippel-Trenaunay-Weber syndrome [2, 3]. In a minority of cases an upper extremity is affected. Infrequently patients have involvement of both limbs on one side and rarely all four extremities will be affected to a variable degree [1, 2, 3].

Not all patients have all abnormalities of the triad. Varicose veins are present at birth or arise shortly thereafter. They involve extensive areas of the affected extremity without predilection for saphenous distribution. They may be slowly progressive or may remain static [2, 3, 4, 5]. The cutaneous haemangioma is of nevus flammeus type and often has a patchy distribution. In addition to its distribution over the involved extremity it may extend up to the buttock and trunk [2, 3].

Fig. 1.

Clinical photograph showing tortuous veins and ulcers over the right leg

Fig. 2.

Colour doppler study showing absence of common femoral vein in right inguinal region

Bone and soft tissue changes lead to enlargement of extremity in both length and width. Rarely there may be atrophic changes [2, 5, 6, 7]. The superficial venous channel is thought to represent the foetal limb bud vein that has failed to regress. The tissue overgrowth is secondary to impaired venous return [1, 5]. Age of onset is usually in childhood with a male to female ratio of 1:1. It may be associated with polysyndactyly, clinodactyly, oligodactyly and congenital dislocation of hip. Other noted associations are haemangiomas of the colon, bladder, spine, liver, spleen and lymphangiomas of the limb. The affection of lower limb is 10-15 times commoner than the upper limb. Bilateral affection may be seen in less than 5% [1, 2, 5, 7].

Important differential diagnoses include Parke-Weber syndrome, Maffuci syndrome, Neurofibromatosis type 1, Beckwith-Wiedeman syndrome and Macrodystrophia lipomatosis [6, 7].

The treatment of Klippel-Trenaunay-Weber syndrome is unsatisfactory. Functionally important arteriovenous fistulas must be approached surgically but ligation and stripping of varicose veins often leads to severe vascular problems with edema and more severe varicosities. An elastic compression bandage is most satisfactory approach [1, 2].

Fig. 3.

Venogram showing absent deep veins and dilated superficial veins in right thigh