Klippel-Trenaunay Syndrome

What is Klippel-Trenaunay Syndrome?

Klippel-Trenaunay syndrome (KTS) is a rare vascular anomaly that involves the blood vessels, the lymphatic system and nearby tissues. The congenital (present at birth) condition is typically seen in the arms and adjacent shoulder or legs and adjacent hips or pelvis.

Signs & Symptoms

The symptoms of Klippel-Trenaunay syndrome vary from patient to patient, but the following features are characteristic of the disease:

• A red birthmark: Most children with Klippel-Trenaunay syndrome are born with a red birthmark (also known as a “port-wine” stain) caused by swelling of the small blood vessels near the skin surface. The birthmarks are typically flat, cover part of one limb, and vary in color from pink to dark purple. The lesion may also develop small red blisters that easily break open and bleed.
• Vein malformations (varicosities): Varicose veins (twisted and swollen veins) are not always present at birth and may appear when a child with KTS begins to walk. While mostly superficial, these malformations may be found in muscles and bones or even organs such as the spleen, liver, bladder or colon. Malformations of large veins can increase the risk of deep vein thrombosis, a type of blood clot that can lodge in the lungs and cause a life-threatening condition known as pulmonary embolism.
• Limb abnormalities: Beginning even before birth, the increased blood supply from enlarged blood vessels can cause soft tissues and bone to grow faster than the rest of the body. This excessive growth (called hypertrophy) happens most often in one leg, but also may be seen in the arms, face, head or internal organs.

Other symptoms may include:

• Blood clots
• Skin infections (cellulitis)
• Anemia, as a result of bleeding/blood loss
• Cysts, swelling or other lymphatic abnormalities
• Chronic pain in the affected arm or leg

Diagnosis

Physical changes that suggest Klippel-Trenaunay syndrome may sometimes be evident on an ultrasound taken during pregnancy. After birth, a variety of exams and tests may be used to diagnose the condition. They include:

• A physical exam with a complete medical history
• Blood tests
• Ultrasound and magnetic resonance imaging (MRI) to look at deep veins and examine the cause of soft tissue enlargement
• Angiograms or MRI scans to identify abnormal connections between veins and arteries and veins (arteriovenous fistulae)
• Computed tomography (CT) scans of the abdomen and pelvis to check for malformations of veins within the abdomen

Treatments

Treatment for Klippel-Trenaunay syndrome focuses on symptom management, as there is no cure for the disease. Treatments may include:

• Compression therapy: Compression (bandages or elastic) garments wrapped around affected limbs to reduce swelling, cellulitis and recurrent bleeding
• Physical therapy: Massage and movement to relieve arm or leg swelling
• Anticoagulant therapy: Medications to prevent blood clots from forming
• Epiphysiodesis: Surgical removal of a bone growth plate to stop overgrowth of a leg
• Embolization: Nonsurgical, minimally invasive procedure that uses small catheters placed into veins or arteries to prevent blood flow to certain areas of the body
• Laser therapy: Pulsed-dye laser treatment to lighten or eliminate port-wine stains; multiple treatments may be necessary
• Sclerotherapy: Injection of a solution into the veins to minimize swelling
• Surgery: Remove or reconstruct affected veins
• Orthopaedic inserts and shoes: Heel inserts to assist in managing leg length differences up to one inch or orthopaedic shoes to correct length differences of more than one inch

Why Choose Us?

The vascular anomalies program at Comer Children's offers an integrated and comprehensive approach to the diagnosis, care and management of vascular malformations. Our multidisciplinary team of pediatric experts works together to educate families and to evaluate and treat children with all types of these vascular lesions.