The Klippel-Trenaunay-Weber Syndrome

The Klippel-Trenaunay-Weber Syndrome is a blood circulatory disorder that causes severe swelling and pain in the legs. It may hinder the person from walking properly and it is generally incurable. But even though that’s the case, this disease is highly manageable and its symptoms can be regulated.

There are three conditions that have to be present in a patient before a medical practitioner can accurately conclude that he has the Klippel-Trenaunay-Weber syndrome or simply, KTW. First, there has to be capillary malformations present in their skin. This is more commonly referred to as a birthmark or a port-wine stain. Second, there’s an excessive growth in their soft tissues or bones. Medically, this condition is referred to as the soft tissue and bony hypertrophy. And lastly, venous malformations as well as lymphatic abnormalities are also observed.

To fully understand this syndrome, the three characteristics of KTW as specified above need to be explained further. Asymmetric limb hypertrophy is the medical term for the overgrowth of tissues and bones. The legs may be enlarged, including the buttocks or even a part of the patient’s trunk.

The venous malformations associated with this disease are referred to as hemangiomas. Here, the blood vessels proliferate inappropriately and sometimes, even excessively. Vascular lesions and sinuous varicosities characterize it.

The birthmarks are called the nevi. They are pigmented moles or spots on the skin. A person with KTW may develop dark lines or streaks on their skin because of too much pigment.

But aside from these three main indications, a person suffering from KTW may also have disproportionately small or large toes and fingers. Sometimes, they are even webbed together. Instances wherein there is an extra finger or a missing finger are also observed.

And even the patient’s face is not spared. Sometimes, a person with KTW has a head that’s either too large or too small for his body frame. The patient’s eyes may also develop cataracts or glaucoma. His internal organs, on the other hand, may be infected with hemangiomas.

And just like the face, the brain may also be affected in the same way. The hemangioma in the brain may cause convulsions or seizures and mental retardation. But even if this is the case, these instances are relatively rare. Generally, intelligence is not impaired with KTW.

KTW is believed to be a congenital condition. This means that it is present during the baby’s birth. It may not always be detected right after the infant is born but it will soon be during his early childhood. Because of this, KTW is classified as a congenital malformation syndrome.

The cause of KTW is yet to be discovered by medical experts. Most of them assume that the disease is inherited, but a lot of cases are seen noted wherein both parents do not have any history of the disease. The real cause of KTW is still being researched right now, because the evidences, which show that this disease is genetically transferred is entirely not conclusive.

Enlarged legs, skin ulcers, and other similar skin problems characterize KTW. Several symptoms of KTW do not really require any treatment at all, unless of course the condition becomes a little bothersome. And there are also times wherein its symptoms cause considerable pains when walking or during any leg related activity.

The treatment of KTW is mostly conservative. Surgery is not really required, not until the problem had accelerated fully. And severe cases of this disease show that the leg has reached enormous proportions and blood-clotting problems had risen from it. For these cases, amputation may be necessary.

KTW is controllable disease if given proper medical attention. And so at the first signs of this disease, a physician has to be consulted. Only then will the KTW patient be able to live life as normally as possible.