Klippel-Trenaunay-Weber Syndrome

Background

• Klippel-Trenaunay syndrome (KTS) is defined by the presence of : a combined vascular malformation of the capillaries, veins, and lymphatics; congenital venous abnormalities; and limb hypertrophy

• Parkes Weber syndrome (PWS) is closely associated with and similar to Klippel-Trenaunay syndrome. Except: arteriovenous malformation (AVM) and skeletal or soft tissue hypertrophy

Signs and symptoms

The birth defect is diagnosed by the presence of a combination of these symptoms :• One or more distinctive port-wine stains with

sharp borders• Varicose veins• Hypertrophy of bony and soft tissues, that

may lead to local gigantism or shrinking.• An improperly developed lymph system

Causes

• The etiologies of the Klippel-Trenaunay and Parkes Weber syndromes still the subject of hypothesis.

• (Translocations involving chromosomes 5 and 11 and 8 and 14 have been reported)

Pathophysiology

• Varicose veins appear in early childhood, and lateral venous anomalies are seen in 80% of cases.

• Limb hypertrophy is presence of vascular and lymphatic abnormalities

• KTS are not associated with arterial malformations slow flow skin lesions appear bluish or purplish.

Epidemiology

• The cutaneous vascular malformation is apparent at birth.

• The venous varicosities and limb hypertrophy may not be apparent initially.

• The average age of presentation of children to a medical center is 4 years

Imaging Studies

• Ultrasonography – Color duplex ultrasonography appears to be a

reliable means of detecting arteriovenous malformations (AVMs) in patients older than 1 year.

• Angiography – Arteriography is primarily indicated when spinal

cord or brain involvement is suspected. Venography is rarely indicated

Medical Care

• Most patients with KTS can be conservatively treated with compression stockings.

• Thrombophlebitis have been acutely treated without long-term prophylactic anticoagulants

Surgical Care

• Servelle reported successful surgical intervention (resection or ligation of abnormal blood vessels) in > 700 patients with KTS.

• Mayo Clinic, surgical ligation and stripping of varicose veins:– improvement 40% – Venous varicosities recurrence after surgery 90%

Tn. Masturi/ 68 th