Klippel-Trenaunay Syndrome

Klippel-Trenaunay syndrome (KTS) is a rare congenital (present at birth) disorder that causes a red “port-wine stain” birthmark, varicose veins and extra growth in one arm or leg. Many people also have issues in their lymphatic system, which helps maintain fluid balance in your body.

Some providers use the abbreviation CLVM for Klippel-Trenaunay syndrome. CLVM refers to the changes in your:

• Capillaries (C), the small blood vessels connecting your veins and arteries
• Lymphatic system (L), the part of your immune system that transports a body fluid called lymph
• Veins (V), the blood vessels that carry blood to your heart

The M is for malformation, meaning a part of your body that didn’t develop in a typical way.

Various treatments, like medicine or laser therapy, can help you manage symptoms of this condition. Early diagnosis and treatment (often, soon after birth) can reduce the risk of complications.

KTS gets its name from the two French doctors who discovered it, Maurice Klippel and Paul Trenaunay. They identified the syndrome in 1900. Experts estimate that KTS affects about 1 in 100,000 people around the world. Anyone can get it; race or sex doesn’t matter.

Symptoms of Klippel-Trenaunay syndrome

Klippel-Trenaunay syndrome symptoms affect your veins, capillaries, soft tissues, bones and lymph vessels in these ways:

• Port-wine stain birthmark: These happen when capillaries swell directly beneath your skin. This birthmark may be the first sign of KTS and can vary from light pink to deep wine-red. As you age, the birthmark can lighten or darken, or it may develop blisters that bleed easily.
• Varicose veins: Almost everyone with KTS has venous malformations. These may occur in superficial veins, leading to varicose veins on your calves and thighs. They can also happen in deeper veins, which may increase your risk of deep vein thrombosis (DVT).
• Unusual limb growth: Your limbs may grow larger than what’s typical, starting in infancy. Overgrowth often affects only one limb, usually your leg. One leg might grow longer than the other. This can limit your movement.
• Extra lymphatic vessels: Some people with KTS also have extra or unusual lymph vessels. These lymphatic malformations often don’t work as they should. They may leak lymphatic fluid, cause foot swelling or cause issues in your pelvis, bladder or lower intestines.
• Pain: Varicose veins may itch or hurt. Blood flow issues can cause swelling and pain in your lower limbs. Overgrowth of a leg can cause pain or a heavy feeling.

Klippel-Trenaunay syndrome causes

A variation in the PIK3CA gene often causes KTS. The gene variation occurs sporadically (for no known reason). You don’t inherit it from your parents.

Some people have KTS without having the PIK3CA variation. Because of this, researchers think other genetic variations could also cause KTS.

Complications of this condition

KTS may cause complications like:

• Blood clots or pulmonary embolism, a life-threatening condition that happens when blood clots travel to your lungs
• Cellulitis, bacterial infections below your skin
• Fluid buildup and swelling (lymphedema)
• Internal bleeding, including bleeding in your gastrointestinal (GI) tract, bladder or female reproductive system

Rarely, people with KTS also have congenital hand differences or toe differences, like:

• Extra fingers or toes (polydactyly)
• Fused (joined) fingers or toes (syndactyly)

How doctors diagnose Klippel-Trenaunay syndrome

Healthcare providers initially diagnose KTS based on the physical signs. You may get a KTS diagnosis if you have issues in two of these three areas: capillaries, veins or limbs.

Because many KTS symptoms are present at birth, your baby may receive a diagnosis before leaving the hospital.

Tests for Klippel-Trenaunay syndrome may include:

• CT scans or MRIs to look at soft tissues and bones
• Magnetic resonance angiogram (MRA), a specialized MRI to look at blood vessels and veins
• Doppler ultrasound to look at how blood flows through veins and arteries

How is it treated?

Klippel-Trenaunay syndrome treatment varies based on symptoms. Treatment may include:

• Blood-thinning medicines: Anticoagulants like heparin reduce the risk of blood clots in your legs and pulmonary embolism.
• Sirolimus: This is a medication that improves symptoms and reduces the risk of complications by slowing down or reducing the abnormal growth of blood vessels.
• Compression stockings: These special socks help blood return to your heart. They can decrease leg swelling and pain and reduce clot risks.
• Shoe lifts: You may wear a lift in one shoe to correct uneven leg lengths. Lifts can help prevent irregular spine curving (scoliosis).
• Endovenous thermal ablation: This treatment uses focused beams of energy inside blood vessels to close off problem veins. The veins stay in place so you can heal faster, with less pain.
• Laser therapy: Focused, strong beams of energy can destroy or remove unwanted tissue. You may have laser therapy to lighten the appearance of port-wine stain birthmarks.
• Sclerotherapy: Your provider injects a special solution into specific veins, capillaries or lymphatic vessels to close them off. Sclerotherapy is often effective for varicose veins.
• Surgery: You may have surgery to correct vein problems or uneven leg length. Or your provider may remove some extra fat or tissue to reduce the size of overgrown limbs. Rarely, healthcare providers may amputate an irregularly large toe so you can wear shoes and walk more easily.

When should I see my healthcare provider?

See your provider for regular check-ups throughout your life. They can monitor your condition and treat any issues you have. Regular visits let your provider see how well treatments are working for you. They can make changes to your treatment plan along the way.

You need to go to the emergency room if you have a blood clot (leg pain, swelling and redness) or heavy bleeding. Blood clots include deep vein thrombosis and pulmonary embolism.

If you have KTS, you may want to ask your provider:

• What are the best treatments for me?
• How often do I need check-ups?
• What’s my prognosis (outlook) based on my current status?

What can I expect if I have this condition?

There’s no cure for Klippel-Trenaunay syndrome, but treatment can help you manage symptoms.

KTS itself doesn’t affect life expectancy. But some complications, like internal bleeding or pulmonary embolism, can be life-threatening. You need quick treatment for GI bleeding or blood clots in your deep veins or lungs. Blood clots or severe blood loss can be fatal. Getting ongoing treatment for these risks can reduce the danger of complications.

Most people with this syndrome have a good prognosis, but that can vary. It depends on how severe your vascular malformations are. They tend to get worse over time.

How do I take care of myself?

If you have Klippel-Trenaunay syndrome, taking good care of your skin can help prevent infections. You can lower your risk of blood clots in these ways:

• Wearing custom-made compression therapy (elastic garments) to help reduce swelling in areas like your legs
• Minimizing periods of immobility (not moving)
• Getting regular physical activity

Can Klippel-Trenaunay syndrome be prevented?

Because KTS happens unpredictably, there’s no way to prevent it. But treatment can help people with KTS live a higher quality of life.

How do I take care of myself?

If you have Klippel-Trenaunay syndrome, you should:

• Take good care of your skin to prevent infections.
• Generally avoid hormonal birth control that contains estrogen because it can raise your risk of blood clots.
• Take medicine during pregnancy to prevent blood clots.
• Receive a blood thinner before surgery to reduce the risk of blood clots.

When should I see my healthcare provider?

See your provider for regular checkups throughout your life. They can monitor your condition and treat any issues you have. Regular visits let your provider see how well treatments are working for you. They can make changes to your treatment plan along the way.

When should I go to the ER?

You need to go to the emergency room if you have a blood clot or heavy bleeding. Blood clots include deep vein thrombosis and pulmonary embolism.

What questions should I ask my healthcare provider?

If you or your child has KTS, you may want to ask your provider:

• What are the best treatments for me?
• How often do I need checkups?
• What’s my prognosis (outlook) based on my current status?

Is Klippel-Trenaunay syndrome life-threatening?

KTS itself doesn’t affect life expectancy. But some KTS complications, like internal bleeding or pulmonary embolism, can be life-threatening. Getting ongoing treatment for these risks can reduce the danger of complications.

Is Klippel-Trenaunay syndrome a disability?

It can be. If KTS complications, like deep vein thrombosis or pulmonary embolism, prevent you from working, you may qualify for disability benefits. For other issues, like trouble walking due to limb growth, you may be eligible for accommodations, like a disability parking tag, to make your life a little easier.