Klippel-Trenaunay Syndrome: Causes, Symptoms, Risk Factors, Diagnosis, Treatment and Complications

Klippel-Trenaunay syndrome, or KTS, affects the development of specific blood vessels, soft tissues (such as muscles and skin), bones, and even the lymphatic system. It is recognized from birth. 

The key characteristics include abnormal venous or lymphatic growth (malformations), an expansion of tissues and bones, and an unusual pink to reddish-purple discolouration (port-wine stain). Though they can also affect the arm or another portion of the body, they typically affect one leg.

Although KTS has no known cure, treatment aims to lessen symptoms and avoid unfavorable consequences.

Causes Of Klippel-Trenaunay Syndrome

KTS is a genetic disorder. Mutations, or changes in the genetic code, are the cause, most commonly in the PIK3CA gene. This gene controls the production of new tissues and cells in the body. A mutation in this gene results in overgrowth of tissues.

KTS is not usually inherited. Random changes in genes occur during cell division in the early stages of development, shortly before birth.

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Symptoms Of Klippel-Trenaunay Syndrome

Patients with KTS may experience any or all of the following symptoms, which range in severity:

• Port-wine stain: The source of this pink to reddish-purple birthmark in the topmost layer of skin is capillaries or extra microscopic blood vessels. A portion of one leg is usually covered by the birthmark, even though it can affect any section of skin. It could get lighter or darker as you get older.
• Abnormalities of veins: The skin of the legs is usually covered in twisted, protruding veins known as varicose veins. Further aberrant vein development in the arms, legs, abdomen, and pelvis is also possible. Spongy tissue with small veins may be present beneath the skin. When people get older, vein abnormalities could become more noticeable.
• Overgrowth of the bones and soft tissues: Beginning in early childhood, this may just affect one leg, but it can also affect the arm, trunk, or, very rarely, the face. The development of bone and tissue causes the extremities to grow longer and larger. Rarely, a person may develop extra fingers or toes, or their fingers and toes may fuse.
• Disorders of the lymphatic system: Anomalies can arise in the lymphatic system of the immune system, which transports lymphatic fluid and protects the body against disease and infection. An overabundance of lymphatic vessels may lead to dysfunction and subsequent fluid leakage into the tissues, resulting in oedema.
• Extra conditions: KTS can also result in hip dislocation, glaucoma, cataracts, blood clotting problems, and purple-red skin when cold.

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Risk Factors Of Klippel-Trenaunay Syndrome

Family history does not seem to be a risk factor for KTS, therefore even if one parent has the condition, it is improbable that the parents of one child with the sickness will have another child with the disorder.

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Diagnosis Of Klippel-Trenaunay Syndrome

A physical examination is the initial step in the diagnosis of Klippel-Trenaunay syndrome. It is advantageous to speak with a vascular malformations specialist for an assessment and treatment recommendations. During the examination, your healthcare provider:

• Ask about your family history and health
• Carries out an examination to look for oedema, varicose veins, and port-wine stains.
• Evaluates the growth of soft tissues and bones visibly

With the use of several diagnostic tests, your doctor can determine the type and severity of the issue as well as the best course of treatment. Among the assessments are:

• Duplex ultrasonic scanning: This test uses high-frequency sound waves to provide incredibly detailed images of blood vessels and blood flow.
• Magnetic resonance imaging is used in MR angiography (MRI): These methods can identify anomalies and help differentiate between bone, fat, muscle, and blood vessels.
•  CT scan: Bone length can be ascertained by using this X-ray technique, which is sometimes referred to as scanner photography.
• CT angiography: With the help of CT scan images, vein clots can be viewed in three dimensions.
• Contrast venography: To find aberrant veins, blockages, or blood clots, an X-ray is performed after a dye is injected into the veins.
• Research on coagulation: The blood clotting process can be evaluated using these techniques.
• Study concerning genes: The unique pattern of gene changes, or "gene signature," that these assays can identify may offer some insight into the cause of the illness.

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Treatment Of Klippel-Trenaunay Syndrome

Although KTS cannot be cured, your doctor can help you manage your symptoms and prevent complications.

Vascular medicine and surgery, skin diseases (dermatology), orthopedic surgery, interventional radiology, physical therapy and rehabilitation, and other disciplines may be part of your healthcare team, depending on the necessity, as KTS may affect multiple body systems.

The optimum course of treatment for you will be determined in consultation with your doctor. Several potential therapies include:

• Compression therapy: To help with swelling, varicose vein problems, and skin ulcers, the affected limbs are covered with bandages or elastic clothes. Bandages are one example of a flexible garment that usually has to fit perfectly. Intermittent pneumatic compression sleeves for the arms or legs that mechanically expand and contract at set intervals may be used.
• Skin care regimen: Keeping the skin on the wounded limb clean can help control superficial bleeding and reduce the chance of infection.
• Physical rehabilitation: Massage, compression, and limb mobility can be used as necessary to treat lymphedema and blood vessel swelling in the arms and legs.
• Orthopedic appliances: They may consist of orthopedic shoes or shoe inserts to accommodate differences in leg length.
• Epiphysiodesis: This orthopedic procedure effectively halts the elongation of the lower leg.
• Embolization: By putting microscopic catheters into the veins or arteries, this procedure restricts blood flow to certain blood vessels.
• Laser treatment: This treatment can be used to treat bleeding and seeping pimples on the skin, as well as to get rid of or lighten port-wine stains.
• Vein ablation using lasers or radiofrequency: Insufficiently formed veins can be sealed off using this non-invasive method.
• The MR-guided ablation method: Blood vessels are treated with a laser or cautery while being guided by an MRI.
• Dermabrasion: A solution injection helps close the vein by forming scar tissue inside it.
• Surgery: Tissue clearance, correction of excessive bone growth, and surgical excision or repair of the affected veins may be beneficial in some cases.
• Medicines: For some people, oral medications have shown promise in the treatment of complex lymphatic and vascular anomalies that cause symptoms. On the other hand, one must be cautious when using certain medications as they may have severe side effects. Symptoms of superficial vascular malformation can be managed with dermal sirolimus.Side effects include bleeding, infection, blood clots, or ulcers that may also need to be treated. Complications associated with pregnancy could need special attention.

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Complications Of Klippel-Trenaunay Syndrome

Complications related to KTS may arise from abnormal lymphatic system development, soft tissues, bones, and blood vessels. They could include:

• Port-wine staining: At some point, the port-wine stain may become deeper in certain areas and form blebs, or blisters, which are more likely to bleed and become infected. Additionally, possible consequences include skin ulcers and poor wound healing.
• Variations in the veins: Varicose veins can cause pain and cause skin ulcers due to their poor circulation. The risk of blood clots, or deep vein thrombosis, is increased by deeper vein abnormalities. If the colts get loose and enter the lungs, they may cause pulmonary embolism, a potentially lethal illness. Venous anomalies in the abdomen and pelvis can cause internal bleeding. Superficial thrombophlebitis, a painful but less deadly kind of blood clot and inflammation, can occur in superficial veins.

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