Kippel Trenaunay Syndrome

Klippel-Trenaunay (klih-PEL tray-no-NAY) syndrome or commonly referred to as “KTS”, is a rare congenital disorder affecting the blood vessels (veins and capillaries), bones, lymphatic system, and soft tissues (skin and muscles) of an isolated region of the body. The disorder is often characterized by the presence of a red birthmark (port-wine stain), hypertrophy (over-growth) of underlying bone and soft tissue structure, and venous and lymphatic malformations or abnormalities. Being congenital in origin, unfortunately there is no known cure for KTS. Treatment goals are directed towards the mitigation of symptoms and complication prevention.

Symptoms

Klippel-Trenaunay syndrome represents a spectrum of symptoms ranging from a mild case to one with extremely severe manifestations. Potential symptoms may include:

  • Port-wine stain.This often medium to large pink to reddish-purple birthmark results from an over-abundance of capillaries in the top layer of the skin. The term “port-wine stain” is quite appropriate given that its appearance correlates well with an actual port wine like stain. The birthmark typically involves large areas of the affected leg but can be present in any affected area including the main trunk of the body. It has been found to vary in intensity as a person ages.
  • Hypertrophy of bones and soft tissue. Hypertrophy means the process of overgrowth. In the case of KTS, the underlying bone and soft tissue will continue to enlarge in size and length as the person ages. This process is in contrast to the normal individual whereby the skeletal bone structure stops growing after one’s growth stops. In KTS individuals this cessation of growth does not happen. The result can be a significantly asymmetric limb (most commonly involving a leg) when compared to the opposing limb.
  • Lymphatic abnormalities. The lymphatic system is an essential part of our body’s ability to fight off infections and diseases. It is comprised of a network of lymph vessels and lymph nodes all over our body that functions to carry our lymph fluid (a clear liquid containing our antibodies and disease fighting cells) around the body to protect us from foreign bacterial and viral invaders.  In KTS, the lymphatic network can be overgrown and dysfunctional resulting in excessive leakage and swelling in the affected soft tissue.
  • Venous disease and malformations. Vein disease is a defect in the valves within the lumen of veins. These valves are what allow our body to push venous blood back towards the heart. In KTS, as it is in the case of more traditional vein disease, these valves begin to breakdown over time. This results in the development of varicose veins and spider veins within the affected area. The deeper veins within the affected limb, abdomen and even pelvis may also become abnormal and more prominent over time as the person ages.
  • Other conditions. Given the congenital nature of KTS, the potential manifestations or complications that can arise are almost endless. How or what symptoms may present themselves is really dependent on the affected region of the body, and precisely what elements of the body are affected. This is why not all KTS patients present the same. This congenital disorder is a spectrum of symptoms and manifestations. This is why some KTS sufferers have been found to present with symptoms ranging from visual issues like cataracts and glaucoma, to blood-clotting issues.

When to seek a doctor

Klippel-Trenaunay syndrome is usually identified at birth given its congenital nature. Proper early diagnosis of the disorder is critical in the development of a long-term treatment and management plan for the patient in order to better treat symptoms and prevent an potential future complications.

Causes

Klippel-Trenaunay syndrome is a congenital condition believed to stem from genetic mutations most commonly in the PIK3CA gene. Mutations within this PIK3CA gene is most commonly believed to be responsible for tissue development within the body. Consequently, the prevalence of bone and soft tissue overgrowth often seen with KTS. Fortunately, KTS is not believed to be an inheritable disorder. The gene mutations that give rise to KTS are felt to be random occurrence’s resulting from the normal process of cell division during embryonic development.

Complications

Complications often seen with Klippel-Trenaunay syndrome stem from its abnormal neovascularization tendencies, soft tissues and bones hypertrophy and its propensity to impact the lymphatic and venous systems. The resulting complications may include but are not limited to:

  • Hypertrophy of the bones and soft tissue.Bone and tissue hypertrophy can result in pain and heaviness in the affected limb. When severe, the patient may experience difficulty in movement in addition to long-term hip and back problems resulting from the consistent strain in ambulation when one limb is significantly larger and heavier than its counterpart.
  • Port-wine stain complications.Port-wine stain on occasion have been reported to thicken over time. Bleeding and infections originating from the blisters or blebs that commonly develop on the port-wine stain have also been reported.
  • Chronic pain.Pain is a commonly reported problem that results from KTS.
  • Psychological strain. There can be an emotional complication seen in patients with KTS. The potential stigma of having a “deformity”, in this case one leg or limb being much bigger than the other or not being able to wear regular pants because one leg will not fit in the pants. Societal opinions can often impose over time a mental toll on KTS sufferers.

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