Klippel-Trenaunay syndrome (KTS): Symptoms, Cuases, Diagnosis & Treatment

 

Overview:

Klippel-Trenaunay syndrome (KTS) is a rare condition characterized by capillary malformations, limb overgrowth or undergrowth, and varicosity. It is caused by genetic mutations ^{1, 2.}

Management of KTS is conservative, with compression therapy and laser treatment for port wine stains. Diagnostic imaging is important before vascular interventions. Treatment techniques, such as sclerotherapy, thermal ablation, or surgical procedures, are personalized. Intraoperative measures like tourniquet use and vena cava filters can help reduce bleeding and prevent complications. A multidisciplinary approach is necessary for KTS management¹.

Some patients may experience life-threatening issues, particularly related to blood clots, so preventive measures are crucial¹.

What is Klippel-Trenaunay syndrome?

Klippel-Trenaunay syndrome, also known as KTS, is a rare condition that occurs from birth and is described by 3 major symptoms include

1. A red birthmark also called port-wine stain (ranging from pink to reddish-purple).
2. Vein malformations (deformities)
3. Abnormal overgrowth of bones and soft tissues. It happens usually in one leg but sometimes in the arms or (rarely) on the torso (trunk) ^1.

Symptoms:

People with KTS may experience the following characteristics, which can vary in severity:

1. Port-wine stain:

Port-wine stain is a pink to reddish-purple birthmark caused by extra tiny blood vessels in the top layer of the skin. It often appears on one leg but can affect any area of the skin. The birthmark may lighten or darken over time.

2. Vein malformations:

These include swollen and twisted veins (varicose veins) primarily on the surface of the legs. Deeper malformations can also occur in the arms, legs, abdomen, and pelvis. Spongy tissue filled with small veins may be present in or under the skin. These vein abnormalities may become more noticeable as a person ages.

3. Overgrowth of bones and soft tissue:

This typically begins in infancy and may be limited to one leg, but it can also affect an arm or, rarely, the trunk or face. The overgrowth leads to a larger and longer extremity. In some cases, fusion of fingers or toes or the presence of extra fingers or toes may occur.

4. Lymphatic system malformations:

The lymphatic system, which plays a role in immune function and fluid transport, can be affected. Extra lymphatic vessels may be present and not function properly, resulting in fluid leakage into the tissues and swelling.

5. Other associated conditions:

KTS can also be accompanied by cataracts, glaucoma, hip dislocation at birth, purple-red skin coloration when exposed to cold, and blood-clotting problems.

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Causes:

• KTS occurs due to somatic mutation in the PIK3CA gene². A somatic mutation refers to an alteration in somatic tissues that occurs after fertilization. Alteration, in these genes causes overgrowth of tissues.
• The PIK3CA gene is responsible for the development of tissues and the growth of cells.
• KTS is typically not passed on from parents to their children. The changes in genes that cause KTS happen by chance during the division of cells in the early stages of development before birth.

Diagnosis and tTreatment:

Klippel-Trenaunay syndrome (KTS) is managed in a conservatively, meaning that treatment approaches are typically cautious and traditional. The extent of diagnostic evaluation depends on the planned treatment. Compression therapy is a key aspect of conservative management, while laser treatment can be used specifically for port wine stains. Before any vascular interventions, imaging is necessary to confirm the venous anatomy and deep venous drainage. The techniques for treating superficial veins and malformations are personalized and may involve sclerotherapy with alcohol or foam, endovenous thermal ablation, or surgical stripping and phlebectomy. Intraoperative use of a tourniquet can help reduce bleeding, and selective use of an inferior vena cava filter can prevent certain complications¹.

Complications:

Complications can arise from the abnormal development of bones, soft tissues, blood vessels, and the lymphatic system in KTS. These complications may include:

a. Vein malformations:

Varicose veins can cause skin ulcers and pain due to poor blood circulation. Deeper malformations in veins can increase the risk of blood clots (called deep vein thrombosis) and potentially cause a life-threatening condition called pulmonary embolism if the clots travel to the lungs. Malformations in the veins (located in the pelvis and abdominal organs) can lead to bleeding inside the body. On the other hand, superficial veins may develop less severe but still painful blood clots and inflammation¹.

b. Port-wine stain complications:

Certain areas of the port-wine stain may thicken over time and develop blisters that are prone to bleeding and infections. Skin ulcers and difficulties with wound healing can also occur.

c. Overgrowth of bones and soft tissue:

Excessive growth of bone and tissue can result in pain, a sensation of heaviness, enlargement of limbs, and difficulties with movement. When one leg is longer than the other due to overgrowth, it can lead to walking problems and potentially cause hip and back issues.

d. Lymphatic system malformations:

Malformations in the lymphatic system can lead to fluid buildup and swelling in the arms or legs (lymphedema), skin breakdown, skin ulcers, leakage of lymphatic fluid, or infection of the layer beneath the skin (cellulitis).

e. Chronic pain:

Pain can be a common issue resulting from complications such as infections, swelling, bone involvement, or vein problems.

Risk factors:

Having a family history of KTS does not appear to increase the risk of having another child with the disorder. Therefore, even if one of the parents has KTS, it is unlikely that they will have another child with the condition³.

When to see a doctor?

It is typically during birth that KTS is recognized. It is crucial to seek medical attention promptly to receive an accurate diagnosis and appropriate care. This will help in managing symptoms effectively and preventing potential complications

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