Klippel-Trenaunay-Weber (KTW) syndrome is a very rare disorder characterized by the abnormal development of blood cells, bones, skin, muscles, and the lymphatic system. It is congenital. A red birthmark, overgrowth of tissues and bones, and vein malformations are the main features of this disorder. Unfortunately, there is no cure for KTW syndrome but the symptoms can be managed and complications can be prevented.
Medical Animation Illustrating Klippel-Trenaunay-Weber (KTW) Syndrome
Symptoms
The symptoms of KTW syndrome may range from mild to severe and the most common ones are:
Port-wine stain - a birthmark that ranges from pink to reddish on the top layer of the skin which is caused by very tiny blood vessels. It may get lighter or darker with age and is usually found on part of one leg.
Overgrowth of bones and soft tissues - this overgrowth usually affects one leg and begins in infancy. It could also happen in the arm and very rarely in the trunk or the face. In extremely rare cases, fusion of fingers or toes, or having extra fingers or toes can also occur.
Vein malformations - swollen and twisted veins develop on the surface of the legs or deeper abnormal veins can occur in the arms, legs, abdomen, and pelvis. These venous abnormalities become more prominent with age.
Abnormalities of the lymphatic system - the lymphatic system is part of the immune system that protects the body against diseases and infections and also transports the lymphatic fluid. In KTW syndrome, the lymphatic system is abnormal, and extra lymphatic vessels are present that don't function properly leading to leakage and swelling.
Other conditions - this syndrome can also include cataracts, glaucoma, hip dislocation at birth, and blood-clotting problems.
Causes
KTW syndrome is a genetic condition. Gene mutations may occur in a particular gene that is responsible for the development of tissues in the body. These mutations may occur randomly during cell division in the early development before birth. It is not inherited and so family history is not a risk factor.
Treatment
There is no cure for KTW syndrome but with treatment, symptoms can be managed and complications may be prevented. There are several treatment options which include:
Compression therapy - bandages or elastic garments are wrapped around the affected limbs to prevent swelling.
Physical therapy
Embolization - this procedure blocks the blood flow to certain blood vessels.
Orthopedic devices - include special shoes or shoe inserts to compensate for differences in the length of the legs.
Epiphysiodesis - this is an orthopedic surgical procedure that aims at altering or stopping the overgrowth of the lower limb.
Sclerotherapy - a solution is injected into a vein to create scar tissue that helps to close the vein.
Laser therapy - is used to lighten the port-wine stain.
Ablation of veins with radiofrequency
Surgery - in certain cases surgical removal or reconstruction of affected veins or correction of overgrowth of bone may be required.
Medication - may help in the treatment of symptomatic vascular malformations.
Living with KTW syndrome can be quite challenging but with support and the right treatment, symptoms can be managed and one can lead a fulfilling life.
Disclaimer: The information in no way constitutes, or should be construed as medical advice. Nor is the above article an endorsement of any research findings discussed in the article an endorsement for any of the source publications.
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Klippel-Trenaunay-Weber (KTW) syndrome is a very rare disorder characterized by the abnormal development of blood cells, bones, skin, muscles, and the lymphatic system. It is congenital and unfortunately, there is no cure for this syndrome.
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