Klippel-Trenaunay syndrome

KTS is a life-long genetic condition that involves reduced functioning of the body’s vascular and lymph systems. These systems support blood circulation and remove waste from tissues. KTS typically affects one limb – a leg, arm or torso. The vascular malformations are present and often fully grown at birth, and it often has a visible element on the skin. The cause of KTS still remains unknown.

What are the symptoms?

KTS is typically characterised by three symptoms:

• Vascular anomalies, including superficial haemangioma, skin discolouration, and varicose veins
• Bony and soft tissue hypertrophy (i.e. over growth of the soft tissue and/or bones), resulting in limb size discrepancies in both circumference and length
• Possible arteriovenous fistulae (uncommon vascular malformations that exhibit as painful bulging veins)

Swelling and KTS

Swelling is a large part of KTS in the affected limb. The affected limb may appear larger in width compared to the non-affect limbs, due to difficulties with fluid drainage, soft tissue and bony overgrowth. The swelling often increases after periods of prolonged standing, walking, or other activities. Prolonged swelling will often cause join pain and discomfort, which may impact upon your child’s abilities to participate in activities. Be sure to monitor your child’s level of swelling to discuss with your OT.

Pain and KTS

Children often feel dull or achy pain in their affected limb as the day progresses. Pain is most commonly due to varicose veins. Like your heart, veins in your body have small valves in them which prevent blood from flowing backwards. The valves in varicose veins are weaker than usual and may not pump blood effectively, allowing blood back through. As the limb is used during the day, blood and excess fluid may pool in these veins causing pain and discomfort for your child. This pain may reduce your child’s ability and desire to participate in activities, so be sure to monitor the level of pain to discuss with your OT.

Treatment

KTS is a complex condition, and a full ‘cure’ is often not achievable. However, some different treatment options are available to help in the reduction of limb overgrowth and cosmetic appearance. Management is usually conservative and symptomatic, and surgical intervention is rare.

Compression Therapy

Compression therapy is the main treatment for children presenting with KTS. It assists in minimising swelling in the affected limbs, in turn reducing tissue overgrowth.

The main purpose of this treatment is to enable your child to participate in activities as much as possible, as this is important for their development. Compression therapy involves applying pressure onto the affected limb which is done by applying bandages or wearing a compression garment. A pressure garment is worn 24 hours a day, and may be required lifelong, or only when your child goes through significant growth periods, deepening on the symptoms.

It is very common for children and parents to find the use of these garments difficult, and we understand how challenging it can be. Compression garments are custom-made to make it as easy as possible for you to apply. Children may also find the garment uncomfortable initially. However, many children often soon realise that the compression assists in reducing pain and discomfort, and become accustomed to the garment.

At home care

There are a few small steps you can take at home to help relieve your child’s discomfort:

• Assist your child in completing their prescribed therapy regimen
• Assist your child in caring for the affected limb with care as they can be easily damaged
• Keep the limb clean and well moisturised
• Encourage your child to participate in age-appropriate activities where possible

Psychosocial support

It is common for a child with KTS to have significant port-wine coloured markings on their affected limb. These markings do not impact upon their physical function, but can alter their cosmetic appearance, which may have an affect on you and your child psychologically. We are here to support your child, so please talk to us about any concerns you may have.

When to seek help

See your GP if your child has any common symptoms.

In an emergency, call Triple Zero (000) and ask for an ambulance.

If you're not sure whether to go to an emergency department, call 13 HEALTH (13 43 25 84) and speak to a registered nurse.

Developed by Burns/Surgical, Queensland Children’s Hospital. We acknowledge the input of consumers and carers.

Resource ID: FS052. Reviewed: April 2018.

Disclaimer: This information has been produced by healthcare professionals as a guideline only and is intended to support, not replace, discussion with your child’s doctor or healthcare professionals. Information is updated regularly, so please check you are referring to the most recent version. Seek medical advice, as appropriate, for concerns regarding your child’s health.