A congenital health condition that causes problems in the development of the blood vessels, soft tissues (including skin and muscles), bones, and lymphatic system (sometimes) is called Klippel-Tranaunay syndrome or KTS. A red birthmark that ranges in color from pink to reddish-purple, malformations of the lymphatic system or veins, and overgrowth of bones and tissues are the primary features of KTS. In most cases, previous features are found in one leg or arm but can occur anywhere in the body.
Unfortunately, there is no way to cure this condition but with proper treatment, you can reduce the symptoms, prevent long-term complications, and improve the quality of life.
Symptoms
Commonly, people with KTS experience the following health problems which range from mild to severe. Examples include:
- Port-wine stain – This occurs due to an increased amount of tiny blood vessels (capillaries) located at the top of the skin layers. It mainly affects a leg or arm but can appear in different body parts. This birthmark can become darker or lighter over time.
- Vein malformations – These appear usually on the surface of the legs and include swollen and twisted veins (varicose veins). Furthermore, deeper malformed veins also can happen in the arms, legs, abdomen, and pelvic region. These malformed veins become more prominent with aging.
- Overgrowth of the soft tissues and bones – This symptom usually appears in infancy and can be limited to one leg. However, it can occur in other body parts including one arm, or in rare cases in the face or trunk. Sometimes, overgrowth of the tissues and bones can provoke longer and larger extremities or a fusion of fingers or toes.
- Malformations of the lymphatic system – This condition can provoke certain malformations in the lymphatic fluid which can lead to fluid leakage into the tissues causing swelling.
- Other diseases – This syndrome can provoke other health problems including hip dislocation at birth, red skin when cold, blood-clotting problems, glaucoma, cataracts, and others.
This syndrome is often diagnosed by doctors at birth. In addition, it is very important to get treatment because it will help to reduce the symptoms and prevent future complications.
Causes
This is a genetic condition and the gene involved in KTS is called PIK3CA. This gene is responsible for the development of the tissues and the growth of cells. A mutation of PIK3CA outcomes in overgrowth of the tissues. Additionally, this condition is not inherited in most cases but occurs randomly during cell division. It happens either in early development or before birth.
Risk Factors
Although family history seems not to increase the risk of getting this condition, it is less probably that parents of a child with Klippel-Trenaunay syndrome will have another one with the same disorder.
What Are The Possible Complications of KTS?
People with KTS usually experience complications due to abnormal development of the blood vessels, soft tissues, bones, and the lymphatic system. Check below some examples:
- Port-wine stain complications – Over time some regions of the port-wine stain may thicken, which leads to blisters. As a result, a person becomes more susceptible to bleeding and infections. Moreover, poor wound healing and skin ulcers also can happen.
- Vein malformations – In such cases, people experience pain and skin ulcers caused by varicose veins. Moreover, deep malformed veins elevate the risk of blood clots (deep vein thrombosis) and can provoke a serious condition (pulmonary embolism). If malformations of the veins occur in the pelvic area and abdominal organs it may lead to internal bleeding. Sometimes, superficial veins can lead to painful clots and inflammation (superficial thrombophlebitis).
- Overgrowth of the soft tissue and bones – It may lead to pain, feeling of heaviness, limb enlargement, movement issues, back problems, and others.
- Lymphatic system malformations – People who have malformations of the lymphatic system can experience the following complications. These include lymphatic fluid leakage, infection of the layer under the skin (cellulitis), skin breakdown and ulcers, swelling of the arms and legs (lymphedema), and other health problems.
- Chronic pain – This is a common problem in people with KTS. It is usually provoked by infections, swelling, vein problems, and others.
If you or your child experience any of the previous complications, it is advised to see a doctor immediately.
Diagnosis
Commonly, the diagnosis of KTS begins with questions about family and medical history and symptoms. Physicians may also perform a physical examination to check for port-wine stains, varicose veins, swelling, and other KTS symptoms. However, they also perform different tests that help to confirm the condition. For example:
- Duplex ultrasound scanning – This test involves high-frequency sound waves to make detailed images of the blood vessels and blood flow.
- MRI and MR (magnetic resonance) angiography – These scans help doctors to determine malformations of the bones and blood vessels.
- Scanogram – This procedure is also known as scanner photography and uses X-rays to make images of the bones.
- CT scan or CT angiography – These tests produce 3D images that help to show blood clots in veins.
- Contract venography – Before this test, doctors will inject a dye into veins and take X-rays usually help to determine if a person has abnormal veins, blockages, or blood clots.
- Coagulation studies
- Genetic studies – These are specific tests that help doctors determine the characteristic pattern of gene differences. Sometimes, genetic studies can explain why KTS occurs.
Treatment
While there is no way to cure KTS, the treatment goal is to reduce the symptoms and prevent complications. Your healthcare team can include different specialists because this syndrome negatively affects multiple body systems. For example specialists in vascular medicine and surgery, skin diseases (dermatology), interventional radiology, orthopedic surgery, physical therapy, and rehabilitation, and others. Check below some treatment options usually prescribed for people with KTS:
- Compression therapy – This includes bandages or elastic garments that are wrapped around affected body regions to prevent swelling, varicose veins issues, and skin ulcers.
- Skincare – Adequate hygiene of the skin can reduce the risk of infection and treat superficial bleeding.
- Physical therapy – These include massage, compression, and limb movement can help to relieve lymphedema in the legs or arms and swelling of the blood vessels.
- Orthopedic devices – such as orthopedic shoes
- Epiphysiodesis – This is a surgery that helps to interrupt the overgrowth of the lower limb.
- Embolization – It is a procedure in which small catheters are placed into veins or arteries to block blood flow to specific blood vessels.
- Laser therapy – It helps to remove or lighten port-wine stains and treat bleeding blebs on the skin.
- Laser or radiofrequency ablation of veins – It is a minimally invasive procedure that helps to close off malformed veins.
- MR-guided ablation – This treatment option is used to treat blood vessels with a laser or cautery under MRI guidance.
- Sclerotherapy – This therapy involves a special solution that is injected into a vein. It helps to make scar tissue and close the vein.
- Surgery – Some people require the following surgeries. For example surgical removal or reconstruction of the negatively affected veins, removal of the excess tissue, correction of the overgrowth of bone, and others.
Medicines
Some people may get some medicines to treat complex vascular and lymphatic malformations. For example topical Sirolimus. However, certain medications can give you significant adverse reactions. Discuss with your healthcare professional about risks and benefits of oral medicines before taking them.
Frequently Asked Questions
What is the life expectancy for people with KTS?
While it is not possible to cure this condition, the lifespan of people with this syndrome is not affected. However, it is very important to get treatment. Otherwise, you may experience life-threatening complications (including internal bleeding).
What is KTS?
This is a genetic disease that negatively affects the development of the blood vessels, bones, and soft tissues (including skin and muscles). The most common symptoms include a red birthmark (port-wine stain), abnormal overgrowth of the bones and soft tissues, and vein malformations. Talk with your healthcare provider for more details.
How common is KTS?
This is considered a very rare genetic disorder that often affects 1 in 100,000 people in the entire world. If you have additional questions, ask your healthcare professional.
