Klippel-Trenaunay Syndrome – Symptoms and Causes

Overview

Klippel-Trenaunay syndrome (KTS) is a rare condition present at birth that affects blood vessel development, soft tissues, bones, and sometimes the lymphatic system. The syndrome has three main characteristics:

• A port-wine stain (reddish-purple birthmark)
• Abnormal vein or lymphatic formations
• Overgrowth of tissues and bones

These features typically affect one leg, though they can appear in an arm or other body parts.

While KTS has no cure, treatment focuses on symptom management and preventing complications that might arise from the condition.

The syndrome causes distinctive physical changes that are usually visible from birth.

Medical professionals can identify KTS through these characteristic features and may use various imaging techniques to confirm the diagnosis.

Signs and Features

People with KTS may show several physical signs. These can range from mild to severe:

• Port-wine Birthmark: This pink to reddish-purple mark appears on the skin due to extra small blood vessels in the top skin layer. It often affects one leg but can appear anywhere on the body. The color may change as you age.
• Abnormal Veins: Vein problems may become more noticeable with age. These include:
  • Swollen, twisted veins (varicose veins) usually on the legs
  • Deeper vein problems in arms, legs, abdomen or pelvis
  • Spongy tissue with small veins under the skin
• Bone and Tissue Growth: This starts in babies and typically affects one leg. Sometimes it can appear in an arm or rarely in the trunk or face. This causes the affected limb to become larger and longer. In rare cases, fingers or toes may be fused or extra digits may develop.
• Lymphatic System Problems: The lymphatic system helps fight infection and moves fluid through the body. In KTS, extra lymphatic vessels may not work correctly, causing fluid leaks and swelling.
• Other Possible Issues:
  • Cataracts
  • Glaucoma
  • Hip problems at birth
  • Purple-red skin when cold
  • Blood clotting issues

When to Contact a Healthcare Provider

KTS is typically identified when a child is born. Getting a quick and accurate diagnosis is essential for proper treatment.

See a doctor promptly to manage symptoms and prevent complications from developing. Early care can make a significant difference in managing this condition effectively.

Causes

Klippel-Trenaunay Syndrome (KTS) develops due to genetic mutations, primarily in the PIK3CA gene. This gene controls cell growth and tissue development throughout the body. When mutations occur in this gene, they lead to abnormal tissue overgrowth.

KTS is not typically passed down from parents to children. Instead, these genetic changes happen randomly during early cell division while the fetus is developing in the womb.

The mutations occur spontaneously before birth rather than being inherited from family members.

Risk Factors

There is no evidence that family history plays a role in this condition.

Parents who have one child with KTS are not likely to have another child with the same disorder. This remains true even if one parent has KTS themselves. The condition does not appear to be passed down through families.

Complications

KTS can lead to several health issues due to unusual growth of blood vessels, tissues, bones, and the lymphatic system. These problems can affect daily life and need medical care.

Skin Stain Issues

The port-wine stain on the skin can get thicker over time. Small blisters may form that can bleed and get infected. The skin may also develop sores that don’t heal well.

Vein Problems

Varicose veins can cause pain and skin sores from poor blood flow. Deeper vein problems may lead to blood clots, which can be dangerous if they travel to the lungs.

Veins in the belly area can cause internal bleeding. Surface veins might develop less serious but painful clots and swelling.

Bone and Tissue Growth

When bones and soft tissues grow too much, it can cause:

• Pain
• Heavy feeling in limbs
• Enlarged body parts
• Movement difficulties

If one leg grows longer than the other, walking becomes hard and may cause hip and back problems.

Lymphatic System Issues

Problems with the lymphatic system can lead to:

Issue	Result
Fluid buildup	Swelling in arms or legs
Skin breakdown	Open sores and ulcers
Fluid leakage	Drainage from affected areas
Infections	Cellulitis under the skin

Pain

Many people with KTS deal with ongoing pain. This can happen because of:

• Infections
• Swelling
• Bone problems
• Vein complications

Mental Health Impacts

Living with KTS can affect mental health too. Research shows that many patients experience:

• Depression
• Anxiety
• Stress related to appearance
• Social challenges

Orthopedic Problems

Children with KTS often need help from bone specialists. Common issues include:

• Leg length differences
• Scoliosis (curved spine)
• Joint problems
• Need for special shoes or supports

Skin Complications

A study of 410 patients found that skin problems are very common with KTS:

• Bleeding from affected skin
• Infections
• Slow healing wounds
• Thickened skin areas

People with KTS need regular medical care from different specialists. Support groups can help connect patients with others who understand these challenges.