HomeHealth articlesklippel-trenaunay-weber syndromeWhat Is Klippel-Trenaunay-Weber Syndrome?

Klippel-Trenaunay-Weber Syndrome: Causes, Symptoms, Diagnosis, and Treatment

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Klippel-Trenaunay-Weber syndrome is a congenital condition. Read the article to know more.

Written by

Dr. Dheeksha. R

Medically reviewed by

Dr. Kaushal Bhavsar

Published At July 14, 2023
Reviewed AtJuly 14, 2023

Introduction

Klippel-Trenaunary-Weber syndrome (KTS) gets its name from the two doctors who discovered the condition, Maurice Klipple and Paul Trenaunary, which was identified in 1900. This is a congenital condition that is present from birth. It is a rare condition that causes a birthmark similar to a port wine stain and also creates issues in the veins, soft tissues, bones, and sometimes the lymphatic system. This condition is characterized by a red birthmark, where color can range from pink to reddish-purple, atypical veins, and overgrowth of tissues and bones. KTS usually affects one leg and can also affect an arm or elsewhere.

What Is Meant by Klippel-Trenaunay-Weber Syndrome?

Klippel-Trenaunary-Weber is a rare condition that is present from birth. This condition causes a red stain called 'port-wine-stain.' KTS alters the development of soft tissues, bone, and blood vessels. It can also cause some abnormalities in the lymphatic system, which is responsible for monitoring and maintaining the fluid balance in the body.

KTS can not be cured completely, but the symptoms caused can be managed through treatments. This condition can be diagnosed shortly after the child's birth. Early diagnosis and treatment can prevent the baby from any further health complications.

Some doctors refer Klippel-Trenaunary-Weber as CLVM, which relates to the alterations in the

  • Capillaries (C): These small blood vessels connect the blood vessels and the arteries.

  • The Lymphatic System (L): It is a part of the immune system that helps transport the body fluid called the lymph.

  • Veins (V): These are the blood vessels responsible for returning blood to the heart.

  • Malformation (M): It refers to the part of the body which has not developed typically.

Klippel-Trenaunary-Weber syndrome and Parkes-Weber syndrome are related conditions but differ from each other. In the 1900s, a doctor named Frederick Parkes Weber found some people with over-enlarged limbs with a specific birthmark. It was thought to be the same as KTS initially. After research, the doctors concluded that Parkes-Weber syndrome is caused due to mutation of a different gene, and it does not affect the lymphatic system.

What Is the Cause of KTS?

Klippel-Trenaunay-Weber syndrome is usually caused due to mutations seen in the PIK3CA gene. These gene mutations are caused due to no specific reasons, and the parents do not receive these genes. Mutation in other genes can also result in KTS, as in some people, KTS is caused without mutation in the PIK3CA gene. KTS condition is not inherited and is caused due to random mutations of genes during cell division that occurs before birth.

What Are the Signs and Symptoms of Klippel-Trenaunay-Weber Syndrome?

The most commonly seen signs and symptoms are:

1. Capillary Deformation (CM):

KTS results in swelling of the capillaries directly under the skin, which lead to a port-wine stain birthmark. These birthmarks can vary from light pink to deep wine-red color. Sometimes, a few blisters can form over the birthmark, which can burst or bleed as the person ages. The presence of this birthmark is the first sign of KTS.

2. Vein Malformation:

The venous malformation is a common symptom in every person affected with KTS. This malformation usually is seen in superficial veins, causing varicose veins. These are twisted veins that are painful or itchy and which are seen in the calves and thighs. Deep vein thrombosis is at risk when malformation occurs in deep veins. Blood flow issues can result in swelling and pain in the lower limbs. Recurrent GI bleeding can be seen if venous malformation occurs in the GI tract.

3. Soft Tissue and Bone Growth:

In infancy, the limbs may grow longer and bigger in proportion. This condition affects only one leg, which grows longer than usual, resulting in limb-length discrepancy. This can result in pain or heaviness, causing a reduced range of motion.

4. Lymphatic Malformation:

Some people who are affected by KTS also face problems in the lymphatic system. This system helps to carry a clear fluid throughout the body, whose components are infection-fighting cells and intestinal juice. In the case of KTS, the extra lymph vessels do not work correctly. These cause leakage of lymph fluid, which may result in foot swelling.

What Are the Other Complications Caused by KTS?

Some complications are,

  • Blood clots.

  • Cellulitis is a bacterial infection beneath the skin.

  • Lymphedema, fluid buildup, and swelling.

  • Internal bleeding was seen in the colon, bladder, and female reproductive system.

  • Pulmonary embolism, where blood clots are formed in the lungs.

  • Extra finger, called polydactyly.

  • Fused fingers.

How Is KTS Diagnosed?

Doctors usually diagnose this condition based on physical signs and symptoms. Specific tests are performed to confirm the state. Some are:

  • CT scan (computed tomography) or MRI (magnetic resonance imaging) to see the soft tissues and bone.

  • MR (magnetic resonance) angiography is used to see the blood vessels and veins.

  • Color Doppler Ultrasound to monitor the blood flow through the veins and arteries.

What Is the Management of KTS?

The treatment of this condition varies based on the symptoms experienced by the person. Some treatment options are:

  • Blood Thinning Medications: To mitigate the risk of blood clots in the legs and lungs that can lead to pulmonary embolism, anticoagulant medications are advised.

  • Compression Stocking: These can help in the blood returning to the heart and helps to reduce swelling of the leg, blood clots, and pain.

  • Endovenous Thermal Ablation: To close the problematic vein by focusing beams of energy inside blood vessels. Through this procedure, the veins stay in place, so the affected person can heal faster with reduced pain.

  • Laser Therapy: Laser therapy can be done to lighten the port-wine stain mark, and the intense beams of energy destroy or eliminates the unwanted tissue.

  • Sclerotherapy: This procedure is effective for varicose veins, where the doctor injects a solution into the specific vein and lymphatic vessels to shut them off.

  • Shoe Lift: A shoe lift is done to correct the leg's uneven length and prevent scoliosis and irregular spine curving.

  • Surgery: Surgery is performed to correct the uneven length and vein issues and eliminate extra fat or tissue from overgrown limbs.

There is no permanent cure for KTS, but various treatment methods help to deal with the symptoms caused by this condition.

Conclusion

Klippel-Trenaunay-Weber syndrome is a congenital condition that is rarely seen, and the babies born with this condition will have a port-wine stain birthmark which is very common, bone or soft tissue overgrowth, and vein malformation. This condition can be identified early at birth due to physical symptoms. KTS does not have a permanent cure, but different treatment methods can deal with the symptoms of this condition.

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Dr. Kaushal Bhavsar
Dr. Kaushal Bhavsar

Pulmonology (Asthma Doctors)

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