Klippel-Trenaunay syndrome (KTS) is a rare condition that causes abnormalities from birth. While KTS can cause a number of different symptoms, most are due to abnormalities of the:

  • blood
  • lymph vessels
  • soft tissue
  • bones

A KTS syndrome diagnosis benefits from a multidisciplinary team that can help you or a loved one manage the symptoms that can occur.

Keep reading to find out more about this syndrome and its treatments.

What is Klippel-Trenaunay syndrome?

Klippel-Trenaunay syndrome is a genetic disorder named after the two French doctors who identified early symptoms of the condition. The condition is a vascular one that affects veins in the body.

Veins are blood vessels responsible for returning blood back to the heart after tissues use it for oxygen. While there are many symptoms a person with KTS can experience, they are all due to underlying differences in the capillaries, veins, and lymphatic system of a person’s body.

These differences in blood flow can cause an unusual symptom where one limb’s bones grow excessively. This symptom can usually happen in one leg and ranges from a small difference in leg length to a significant difference. A person with KTS can also have an enlarged foot.

What are the symptoms of Klippel-Trenaunay syndrome?

There are three common or characteristic features of KTS. These include:

Other KTS symptoms can vary from person to person. Some symptoms can occur more often than others. The following is a table of some of these symptoms:

Symptoms of Klippel-Trenaunay syndrome

80%-99% of people with KTS have:30%-79% of people with KTS have:5%-29% of people with KTS have:
cataractsabnormality of coagulationbone pain
cavernous hemangiomacognitive impairmentcellulitis
finger syndactylygastrointestinal hemorrhagecongestive heart failure
glaucomahand polydactylyfacial asymmetry
large facemultiple lipomashematuria
macrocephalyseizuremenstrual cycle abnormalities
microcephalytricuspid valve prolapseovergrowth of one leg
scoliosispulmonary embolism
venous insufficiencytall stature

What causes Klippel-Trenaunay syndrome?

A mutation in a gene called the PIK3CA gene causes Klippel-Trenaunay syndrome. The gene mutation from KTS is due to a somatic mutation. This means that the mutation doesn’t come from either parent, but is random and happens while the fetus develops. So, it appears that you can’t inherit the condition.

Researchers are still trying to identify if there are some genes that may make a person more likely to have KTS. While they haven’t found that you can inherit the condition, a 2022 research review, identified genes that may be more likely to cause problems with vein formulation. Researchers are studying if having these genes makes it easier for KTS to occur.

How is Klippel-Trenaunay syndrome diagnosed?

Doctors will usually diagnose KTS by the signs and symptoms a baby or young person displays. However, they may utilize imaging studies to determine how significantly KTS affects a young person and their blood flow. Examples of these studies include:

A doctor may recommend further workup by medical specialists for specific symptoms, such as abnormal leg length.

Questions for your doctor or healthcare professional

Receiving a KTS syndrome diagnosis can be understandably overwhelming. Some initial questions to ask your doctor include:

  • What symptoms of KTS do I have?
  • Should I contact a specialist for these conditions?
  • What treatments can I expect to begin?
  • What are some things I can do at home to live better with KTS?

What is the treatment for Klippel-Trenaunay syndrome?

Currently, no cure exists for Klippel-Trenaunay syndrome. However, there are treatments that can reduce the severity of some symptoms. Whenever possible, doctors will usually emphasize conservative treatments such as:

  • maintaining a healthy weight
  • drinking plenty of water
  • managing lymphedema
  • practicing good hygiene
  • proper skin maintenance
  • exercise regularly

Medical treatments

Medical treatments depend upon the symptoms a person with KTS has.

Treatment options may include:

  • amputation of significantly enlarged toes
  • laser therapy to diminish skin lesions, such as port-wine stains
  • limb length correction surgery to correct uneven limb length
  • surgical removal of colon portions that may have frequent bleeding
  • vein repair using lasers or other surgical approaches

If a person with KTS experiences blood clots in the lower legs, they may also take anticoagulants to prevent future blood clots. However, this can be difficult because some people with KTS also have chronic bleeding.

One 2018 study estimated that 23.2 percent of people with KTS also experience mental health-related conditions, including depression and anxiety. Contacting a mental health professional can also be an important part of managing their condition.

Healthcare team that may treat a person with Klippel-Trenaunay syndrome

Because there are so many symptoms associated with KTS, you or a loved one may talk with multiple healthcare professionals, such as:

  • CLT-LANA-certified lymphedema therapist
  • dentist
  • dermatologist
  • hematologist
  • mental health professional, such as a psychiatrist
  • registered dietitian
  • oral/maxillofacial surgeon
  • orthopedic surgeon
  • pain management specialist
  • physical or occupational therapist
  • plastic surgeon
  • vascular surgeon

Home remedies

Some people with KTS experience lymphedema, or significant swelling. If this is the case, they may utilize elastic compression wraps or compression socks to reduce swelling. A doctor may also recommend the use of electric pumps, which attach to inflatable wraps that provide varying compression.

A person with KTS may also connect with a physical or occupational therapist, who can help them identify activity modifications and exercises that help a person perform daily activities.

What’s the outlook for people with Klippel-Trenaunay syndrome?

It’s important to know that KTS is a progressive condition. In some individuals, these progressive symptoms could be life threatening.

People with KTS might often experience a lower quality of life compared with people who do not have the condition. The condition can often affect an individual’s mental health, and people with KTS tend to report experiencing depression and anxiety. For these reasons, it’s important to have a strong support system and medical team to help a person live well with KTS.

What are the risk factors for Klippel-Trenaunay syndrome?

Researchers don’t know exactly what causes Klippel-Trenaunay syndrome. You cannot inherit the condition, and it affects males and females in similar numbers. Therefore, there are currently no steps expectant parents can take to reduce the chances of this condition.

The takeaway

The symptoms of Klippel-Trenaunay range from mild, cosmetic concerns to severe, life threatening bleeding and pain. However, as these symptoms manifest, early diagnosis and supportive treatments can be the keys to helping people with KTS.