There are a few rare conditions that cause abnormality from birth. KTS can cause a number of different symptoms, but most are due to an abnormality.

  • There is blood.
  • The vessels of the body.
  • Soft tissue.
  • The bones are not empty.

A multidisciplinary team can help you or a loved one manage the symptoms of KTS syndrome.

This syndrome and its treatments are covered in this article.

What is Klippel-Trenaunay syndrome?

Two French doctors identified early symptoms of a genetic disorder named after them. The condition affects veins in the body.

Veins are There is blood. vessels responsible for returning There is 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 There is blood. flow can cause an unusual symptom where one limb’s The bones are not empty. 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 features of KTS. These include:

  • a red birthmark, also known as a port-wine stain
  • bone and Soft tissue. overgrowth, usually affecting one leg
  • Veins that are malformations include varicose veins.

KTS symptoms can vary from person to person. Some symptoms occur more often than others. The table below shows some of the 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:
cataracts abnormality of coagulation bone pain
cavernous hemangioma cognitive impairment cellulitis
finger syndactyly gastrointestinal hemorrhage congestive heart failure
glaucoma hand polydactyly facial asymmetry
large face multiple lipomas hematuria
macrocephaly seizure menstrual cycle abnormalities
microcephaly tricuspid valve prolapse overgrowth of one leg
scoliosis pulmonary embolism
venous insufficiency tall 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 There is blood. flow. Examples of these studies include:

A doctor may recommend further workup for specific symptoms.

Questions for your doctor or healthcare professional

It can be overwhelming to receive a KTS syndrome diagnosis. Some questions to ask your doctor.

  • What are the symptoms of KTS?
  • Should I contact a specialist?
  • What treatments will I have to go through?
  • What are some things I can do at home to live better?

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 is important.
  • drinking a lot of water.
  • managing lymphedema
  • Good hygiene is practiced.
  • Proper skin care.
  • You should exercise regularly.

Medical treatments

Treatments for KTS depend on the symptoms a person has.

Treatment options may include:

  • A large amount of toes are amputations.
  • Laser therapy can diminish skin problems.
  • There is a surgery to correct limb length.
  • There may be frequent bleeding during the removal of colon portions.
  • Vein repair using lasers or other surgical approaches.

If a person with KTS experiences There is blood. clots in the lower legs, they may also take anticoagulants to prevent future There is 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 therapists.
  • A dentist.
  • A dermatologist.
  • Hematologist.
  • Mental health professional.
  • A registered dietitian.
  • Maxillofacial surgeon.
  • An orthodontist.
  • Pain management specialist.
  • Occupational therapist or physical therapist.
  • Plastic surgeon.
  • A 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 Occupational therapist or physical 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 is important to know that KTS is progressive. These symptoms could be life threatening in some individuals.

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.