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Klippel-Trenaunay syndrome

Klippel-Trenaunay (klih-PEL tray-no-NAY) syndrome ― also called KTS ― is a rare disorder found at birth (congenital) involving problems in the development of certain blood vessels, soft tissues (such as skin and muscles), bones and sometimes the lymphatic system. The main features include a red birthmark (port-wine stain), ranging in color from pink to reddish-purple, atypical vein or lymphatic development (malformations), and overgrowth of tissues and bones. These findings most often affect one leg but may occur in an arm or elsewhere.

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

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

When to see a doctor

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

KTS is a genetic disorder. It 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 overgrowth of tissues.

KTS is not usually inherited. The gene changes occur randomly during cell division in early development before birth.

Family history doesn’t seem to be a risk factor, so it’s unlikely that parents of one child with KTS will have another child with the disorder, even if one of the parents has KTS.

Complications of KTS can result from atypical development of blood vessels, soft tissues, bones and the lymphatic system. These can include:

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

Several diagnostic tests can help your doctor evaluate and identify the type and severity of the condition and help determine treatment. Some tests include:

Although there’s no cure for KTS, your doctor can help you manage symptoms and prevent complications.

Because KTS may affect many systems in the body, your health care team may include specialists in vascular medicine and surgery, skin diseases (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 are most appropriate for you. Treatments may include:

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

Strategies to help manage KTS symptoms include:

Living with 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 provide educational materials, resources and information about connecting with others. Ask your doctor if there is a local support group in your area.

Talking with a psychologist, psychiatrist or other mental health professional also may be helpful to many people with KTS.

Most cases of KTS are found at birth. If the doctor suspects that your child has this syndrome, diagnostic tests and treatment will likely begin before your child leaves the hospital.

Your child’s doctor will look for developmental problems at regular checkups and give you the opportunity to discuss any concerns. It’s important to take your child to all regularly scheduled well-baby visits and annual appointments.

Here’s some information to help you prepare.

What you can do

If your doctor believes your child shows signs of KTS, basic question to ask include:

What to expect from your doctor

Your child’s doctor will ask you a number of questions, such as:

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

© 1998-2024 Mayo Foundation for Medical Education and Research (MFMER). All rights reserved.

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