Which are the symptoms of Klippel-Trénaunay-Weber Syndrome?

Symptoms of Klippel-Trénaunay-Weber Syndrome

Klippel-Trénaunay-Weber Syndrome (KTWS), also known as Klippel-Trénaunay Syndrome, is a rare congenital disorder characterized by a triad of symptoms including port-wine stain birthmarks, varicose veins, and soft tissue and bone overgrowth. This condition primarily affects the skin, blood vessels, and bones, and can lead to a range of symptoms and complications.

Port-Wine Stain Birthmarks

One of the hallmark features of Klippel-Trénaunay-Weber Syndrome is the presence of port-wine stain birthmarks. These birthmarks are typically present at birth and appear as flat, pink or red patches on the skin. They are caused by abnormal blood vessels near the surface of the skin, which result in a permanent discoloration. Port-wine stains can vary in size and shape, and may be located anywhere on the body. In some cases, they may cover a large area and can be associated with increased risk of complications.

Varicose Veins

Another common symptom of Klippel-Trénaunay-Weber Syndrome is the development of varicose veins. These are enlarged, twisted veins that are visible just beneath the surface of the skin. Varicose veins occur due to abnormal blood flow and weakened vein walls. They can cause discomfort, pain, and aching in the affected area. Varicose veins in KTWS are often more severe and extensive than those typically seen in the general population.

Soft Tissue and Bone Overgrowth

Individuals with Klippel-Trénaunay-Weber Syndrome may experience soft tissue and bone overgrowth in the affected limb or area. This overgrowth can lead to an increase in the size and length of the limb, causing asymmetry and functional limitations. The soft tissues, including muscles and skin, may become thicker and larger than normal. Bone overgrowth can result in an abnormal shape or length of the affected bones, leading to skeletal abnormalities.

Lymphatic Abnormalities

In addition to the primary symptoms, Klippel-Trénaunay-Weber Syndrome can also involve lymphatic abnormalities. The lymphatic system is responsible for draining excess fluid from tissues, but in KTWS, there may be malformations or blockages in the lymphatic vessels. This can lead to swelling, known as lymphedema, in the affected limb or area. Lymphedema can cause discomfort, heaviness, and increased susceptibility to infections.

Other Possible Symptoms

While the triad of symptoms mentioned above are the main features of Klippel-Trénaunay-Weber Syndrome, there can be additional associated symptoms and complications. These may include:

• Hemangiomas: Raised, red or purple birthmarks caused by an abnormal collection of blood vessels.


• Abnormalities in other organs: Rarely, KTWS can affect organs such as the gastrointestinal tract, urinary system, or cardiovascular system.


• Joint problems: Some individuals may experience joint pain, stiffness, or limited range of motion in the affected limb.


• Increased risk of blood clots: The abnormal blood flow and vessel structure in KTWS can predispose individuals to blood clot formation.


• Emotional and psychological impact: Living with visible birthmarks and physical differences can have an emotional impact on individuals with KTWS, leading to self-esteem issues and psychological challenges.

It is important to note that the severity and combination of symptoms can vary widely among individuals with Klippel-Trénaunay-Weber Syndrome. Some individuals may have mild symptoms and experience minimal impact on their daily lives, while others may have more severe manifestations requiring medical intervention and ongoing management.