Klippel-Trenaunay Syndrome (KTS): What is kt Syndrome?

Klippel-Trenaunay Syndrome (KTS): What is kt Syndrome? 

Klippel-Trenaunay syndrome is a rare condition that affects the development of blood vessels, soft tissues, and bones, It is a rare birth congenital vascular disorder in which a limb may be affected by port wine stains (red-purple birthmarks involving blood vessels), varicose veins, and abnormal growth of bone and soft tissue. The limb may be larger, longer, and/or warmer than normal.

You might have seen people with a big leg or a big arm having dark reddish patches on it ,these are the people who are affected with Klippel-Trenaunay syndrome. Usually this abnormal growth is limited to one limb, most often one leg. However, overgrowth can also affect the arms or, rarely, the torso. The abnormal growth can cause pain, a feeling of heaviness, and reduced movement in the affected area. If the overgrowth causes one leg to be longer than the other, it can also lead to problems with walking.

History of Klippel-Trenaunay Syndrome

Symptoms of kt syndrome were firstly discovered in the early of 20th century by the french physicians Klippel and  Trenaunay, It has created a huge medical controversy in early of 20th century when physicians found an abnormal development of blood vessels,bones and skin muscles. Later in 20th century it was added in medical literature as a rare birth congenital vascular disorder in human.

How rare is Klippel-Trenaunay Syndrome

Patient of Kt syndrome is found at least 1 in a 100,000 in world wide population. The cause of  Klippel-Trenaunay Syndrome is unknown.

Causes and symptoms of Klippel-Trenaunay syndrome

Symptoms:

  • Port-wine stains: At birth pink to reddish-purple birthmark is caused in the top layer of skin.This stain is known as port wine stain usually people who are affected to Kt syndrome are born with these type of stains. At first Usually this birthmark seen on one leg of patient but it can affect any part of body. With ageing , the color of the stains becomes dark.
  • Overgrowth of bones and soft tissues:Overgrowth of bones occurs in one leg or arm ,usually those leg,arm look bigger in size compared to other. Sometimes These overgrowth of bones can be occurring on face, which is shaped like trunk on the  face.
  • Vein malformations: Also known as venous malformation is a condition in which patient usually suffers from swollen and twisted veins across on surface of one leg and in deep abnormal veins of arm.

Causes:

Few studies of medical evolution has shown that Klippel-Trenaunay syndrome is  genetic diseases and It is caused by the mutations in gene. Mutation of  PIK3CAgene is the reason for Klippel-Trenaunay syndrome. These genetic changes result into overgrowth of bones and tissues.

Treatment Cure of Kts diseases 

As per medical studies kts can not be cured 100% ,but there are few tested methods available for cure:

  • Ligation: Ligation means the surgical tying of veins through a small incision in the skin to prevent pooling of blood.
  • Sclerotherapy: Sclerotherapy is a variation of the procedure performed under ultrasound guidance that involves the injection of a foaming agent mixed with a sclerosing agent. The foaming agent moves blood out of the vein so the sclerosing agent will have better contact with the vein wall.
  • Laser Therapy:Laser therapy is available to lighten or remove the port wine stain.

Conclusion

In the end we can conclude that kts is a very rare diseases ,having affected by these is 1 in 100,000, yet it is very dangerous and could end anyone’s life.It is a genetic diseases so human can’t control it but surely there are few tested treatment method available so we can decrease the pain of patients.

 

 

 


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