Klippel-Trenaunay Syndrome

Introduction

Klippel-Trenaunay Syndrome is a rare congenital (present at birth) vascular disorder that affects bones, soft tissues and blood vessels. It is characterised by appearance of a red birthmark (port-wine stain), bone and vein malformations and abnormal growth of soft tissues. Klippel-Trenaunay Syndrome can also lead to complications like cellulitis (skin infection), lymphedema (swelling due to fluid accumulation) and internal bleeding (abnormal blood vessels). Klippel-Trenaunay Syndrome affects one in 40,000 children irrespective of ethnicity and gender.

Causes

The cause of Klippel-Trenaunay syndrome is unknown. However, research suggests that mutation (change) in one or more genes responsible for growth of blood vessels during embryonic development may be responsible. It is unclear as to how these malformations of blood vessels are related to soft tissue abnormalities and overgrowth of bones.

Symptoms

The most common symptoms of Klippel-Trenaunay syndrome are port wine stains (appearing as flat red or purple birthmarks involving blood vessels), varicose veins, and overgrowth of one limb. Other symptoms can include bleeding from affected limb and pain in the limb, blood in urine, skin infections, anaemia, seizures, rectal bleeding, and vaginal bleeding.

Diagnosis

A complete medical history and physical examination is enough to make a diagnosis in many patients. Klippel-Trenaunay syndrome will be diagnosed if a child has all three symptoms of port wine stain, varicose veins and over growth of limbs. Your doctor may order for a Doppler ultrasound, venography or MRI scan to have a clear picture of the depth of abnormality.

Management of Klippel-Trenaunay syndrome depends on symptoms.

• Supportive care such as wearing compression garments and stockings, keeping the leg in an elevated position and using shoe inserts may be recommended at an early stage to help control limb swelling and pain.
• Medicines such as analgesics and antibiotics may be advised to manage cellulitis. Your doctor might recommend anticoagulants to treat the blood clots.
• Laser therapy may be advised in cases of ulceration and breakdown of lymphatic blebs, small cysts filled with lymph fluid. It is very effective in treating pain and lightening the colour of the port wine stain.
• Surgical option may sometimes be recommended or more probably these days endovenous vein closure procedures.
• Sclerotherapy involves injection of a chemical into the vein causing inflammation. The blood cannot flow through it and the vein collapses and forms scar tissue.