Description

The syndrome of Klippel-trenaunay syndrome (klih-PEL of the tray-not-NAY) syndrome, also called KTS ― is a rare disorder that is found at birth (congenital), the participation of problems in the development of certain blood vessels, soft tissues (skin and muscles), bone, and sometimes the lymphatic system. The main features include a red birthmark (port-wine stain), ranging in color from pink to reddish-purple, atypical venous or lymphatic development (malformations), and the excessive growth of the tissues and the bones. These results most often affect a leg, but it can occur in the arm or in other places.

Although there is no cure for the KTS , the goals of treatment are to improve symptoms and prevent complications.

Symptoms

People who have KTS may have the following features, which can vary from mild to more extensive:

  • Port-wine stain. This pink to reddish-purple birthmark is caused by the extra to the small blood vessels (capillaries) in the upper layer of the skin. The birth mark often covers part of the leg, but it can affect any part of the skin. You can get darker or lighter with age.
  • Vein malformations. These include swollen, twisted veins (varicose veins), generally on the surface of the legs. Deeper incorrect veins in the arms, legs, abdomen and pelvis can also occur. There may be spongy tissue that fills with small veins in or under the skin. Malformed veins may become more prominent with age.
  • Excessive growth of the bones and soft tissues. This begins in childhood and may be limited to a single leg, but it can occur in an arm or, rarely, on the trunk or face. This excessive growth of bones and tissues creates a larger and longer of limb. Rarely, it may be the fusion of the fingers of the hands or feet, or extra fingers or toes.
  • System lymphatic malformations. The lymphatic system, which is part of the immune system that protects against infection and disease, and transports the lymphatic fluid — may be incorrect. Extra lymphatic vessels may be present that do not function properly and may lead to the leakage of fluid into the tissues and inflammation.
  • Other conditions. KTS may also include cataracts, glaucoma, hip dislocation at birth, red-purple, the color of the skin when it is cold, and blood clotting problems.

When to see a doctor

KTS is usually identified at birth. It is important to get a fast, accurate diagnosis and appropriate care to treat the symptoms and prevent complications.

Causes

KTS is a genetic disorder. Involves genetic changes (mutations), most commonly in the PIK3CA gene. This gene is responsible for the growth of cells and the development of tissues in the body. A change in this gene results in the excessive growth of the tissues.

KTS is generally not hereditary. The genetic changes that occur randomly during cell division in early development before birth.

Risk factors

The history of the family does not appear to be a risk factor, so it is unlikely that the parents of a child with KTS is going to have another child with the disorder, even if one of the parents has KTS .

Complications

Complications of KTS may be the result of an atypical development of blood vessels, soft tissues, bone and lymphatic system. These may include:

  • Port-wine stain complications. Some areas of the port-wine stain may thicken over time and can form blisters (vesicles) that are prone to bleeding and infections. Skin ulcers and wound healing may also occur.
  • Vein malformations. Varicose veins can cause pain and skin ulcers due to poor circulation. Deeper incorrect veins can increase the risk of blood clots (deep venous thrombosis) and cause a life-threatening condition called pulmonary embolism if the clots break off and travel to the lungs. Venous malformations in the pelvic and abdominal organs can cause internal bleeding. The superficial veins may develop as serious, but painful formation of blood clots and inflammation (superficial thrombophlebitis).
  • Excessive growth of the bones and soft tissues. The excessive growth of the bones and the tissues can cause pain, a feeling of heaviness of the limbs of the expansion, and problems with movement. The overgrowth that causes one leg longer than the other, it can result in problems with walking and can lead to hip and back problems.
  • System lymphatic malformations. Malformations of the lymphatic system can cause a buildup of fluid and swelling in the tissues of the arms or legs (lymphedema), skin breakdown and ulcers of the skin, leakage of lymphatic fluid, or infection of the layer just under the skin (cellulitis).
  • The chronic pain. The pain can be a common problem that results from complications such as infections, inflammation, bone involvement or problems in the veins.

Diagnosis

The diagnosis of Klippel-trenaunay syndrome begins with a physical exam. Referral to a vascular malformations specialist is useful for the evaluation and treatment recommendations. During the evaluation of your health care provider:

  • Asks questions about your family and medical history
  • Do an exam to look for swelling, varicose veins and port-wine stains
  • Visually evaluates the growth of the bones and soft tissues

Several diagnostic tests can help your doctor to assess and identify the type and severity of the disease and help determine the treatment. Some of the tests are:

  • The duplex ultrasound. This test uses high-frequency sound waves to create detailed images of blood vessels and blood flow.
  • The magnetic resonance imaging and magnetic resonance (MR) angiography. These procedures help to differentiate between bone, fat, muscle and blood vessels and can identify malformations.
  • Scanogram. Also called scanner photography, this X-ray technique creates images of the bones and helps measure their lengths.
  • CT scan or computed tomography angiography. A ct scan creates 3D images of the body that help to show the blood clots in the veins.
  • Contrast venography. This procedure involves injecting a contrast dye into the veins and the X-ray may reveal atypical veins, blockages or blood clots.
  • Coagulation studies. These tests can help assess how the formation of blood clots.
  • The genetic studies. These tests can identify the characteristic pattern of the genes of the differences (gene signature), which may explain why the condition occurred.

Treatment

Although there is no cure for KTS , your doctor can help you control symptoms and prevent complications.

Because KTS can affect many systems in the body, your health care team may include specialists in medicine and vascular surgery, diseases of the skin (dermatology), interventional radiology, orthopedic surgery, physical therapy and rehabilitation, and other areas as needed.

You and your doctor can work together to determine which of the following treatments is most appropriate for you. Treatments may include:

  • The compression therapy. Elastic bandages or garments are wrapped around the limbs to help prevent swelling, problems with varicose veins and ulcers of the skin. These elastic bandages or garments, often need to be custom made. Intermittent pneumatic compression devices of the leg or the arm sleeves that automatically inflate and deflate at certain intervals of time — can be used.
  • Care of the skin. Hygiene of the skin of the affected limb can reduce the risk of infection and be a part of the surface treatment of bleeding.
  • The physical therapy. Massage, compression and movement of the limbs, as appropriate, may help to relieve lymphedema in the arms or legs, and swelling of the blood vessels.
  • Orthopedic devices. These may include orthopedic shoes or shoe inserts to compensate for the differences in the length of the legs.
  • Epiphysiodesis (ep-ih-z-e-OD-uh-sis). This is an orthopedic surgical procedure that can effectively stop length the excessive growth of the lower extremity.
  • The embolization. This procedure is performed through small catheters placed in the veins or arteries, blocking the flow of blood to the blood of the blood vessels.
  • The laser therapy. This procedure can be used to remove or lighten the hemangiomas and for the treatment of leakage and bleeding of vesicles on the skin.
  • Laser or radiofrequency ablation of the veins. This minimally invasive procedure that is used for the closure of vascular malformations.
  • MR-guided ablation. The blood vessels are treated with a laser or cautery under the direction of the RM.
  • Sclerotherapy. A solution is injected into a vein, which creates scar tissue that help to close the vein.
  • Surgery. In some cases, surgical removal or reconstruction of the affected veins, the removal of the excess tissue, and the correction of the proliferation of bone can be beneficial.
  • The medication. Some people have benefited from the oral medications that can help to treat the complex of vascular and lymphatic malformations that cause the symptoms. But these drugs can have significant side effects that require monitoring. Topical sirolimus may help to relieve symptoms of superficial vascular malformations. Studies are underway to determine the efficacy and safety of these medications in people with KTS .

In addition, the treatment may be needed for complications such as bleeding, infection, blood clots or skin ulcers. Special care may be needed during pregnancy to avoid complications.

Lifestyle and home remedies

Strategies to help manage KTS symptoms include:

  • Keep your appointments. Regular appointments can help your doctor identify and address problems early. Ask your doctor about what schedule is right for you.
  • The use of orthopedic shoes, if recommended. Orthopedic shoes or shoe inserts can improve the physical function.
  • Follow the recommendations of your doctor about physical activity. Promotion of the use of the limbs, as appropriate, may help to relieve lymphedema and swelling of the blood vessels.
  • Elevate affected limbs. When possible, lifting your leg or other affected limb can help to reduce lymphedema.
  • Notify your doctor of changes. Work with your doctor to manage the symptoms and prevent complications. Contact your doctor if you have symptoms of blood clots or infection, or if you experience an increase in pain or swelling.

Coping and support

Living with the KTS can be a challenge. Support and advocacy groups can provide a connection with other people who have KTS . The K-T Support Group and other organizations offer educational materials, resources and information about the connection with others. Ask your doctor if there is a local support group in your area.

To speak with a psychologist, psychiatrist, or other mental health professional may also be helpful for many people with KTS .

Preparing for your appointment

The majority of the cases of KTS are found in the birth. If the doctor suspects that your child has this syndrome, the diagnostic tests and treatment is likely to start before your child leaves the hospital.

Your child's doctor will look for the development of problems in the regular check-ups and give them the opportunity to discuss any concerns. It is important to take your child to all regularly scheduled well-baby visits and appointments.

Here's some information to help you prepare.

What you can do

If your doctor thinks that your child shows signs of KNOTS , basic question to ask include:

  • What diagnostic tests will be needed?
  • When will I get the test results?
  • What specialists might be needed?
  • What medical conditions associated with this syndrome need to be addressed now?
  • How will you help me to monitor my child's health and development?
  • You can suggest materials and local education support services related to this syndrome?

What to expect from your doctor

Your child's doctor will ask you a series of questions, such as:

  • What are the symptoms of the child that you are concerned about?
  • Has your child had any procedure or treatment for these symptoms?
  • Has your child had any previous trouble with infections or blood clots?
  • Do you have a problem with your pregnancy or the birth of your child?
  • Can you tell Me about your family's medical history?
  • Is your child having trouble dealing with family, social activities or in school?

Your doctor will ask additional questions based on your responses, symptoms, and needs. Prepare and anticipate questions will help you make the most of your time with the doctor.

Symptoms and treatment of Klippel-trenaunay syndrome