KLIPPEL TRENAUNAY WEBER SYNDROME

KLIPPEL TRENAUNAY WEBER SYNDROME

Overview and Facts

Klippel Trenaunay Weber Syndrome is one of the known rare birth (congenital) disorders recorded in medical history. Various essential body parts and tissues are severely affected by this disease, such the blood vessels (from abnormal development), different soft tissues such as skin and muscle tissues, bones, and a bodily system called the lymphatic system.

Patients affected by this disease will have a noticeable red birthmark on the body (also called port-wine stain), the tissues, bones being overgrown during their development, and malformations in their veins that may not contain lymphatic abnormalities.

Sadly, this disease has no cure as of the time being, but there are many ways to prevent complications from its symptoms, and in managing those same symptoms to help affected patients.

Types and Symptoms

TYPES

Currently, there are no other types that have been medically recorded as of today.

SYMPTOMS

There are various symptoms one can experience that is affected by this disease, which is listed below:

  • Port-wine Stain– the most natural sign to be visually spotted in a patient
  • Vein malformations– usually affect varicose veins (being twisted and swollen), commonly located in leg surfaces; some are located in the arms, abdomen, and pelvis (via deep abnormal veins)
  • Bones and soft tissues being overgrown– usually forming in the legs, this can also happen in the arms, trunk area or the face area; some can even have their toes or fingers fused or having extra of either one
  • Abnormalities of the lymphatic system– this system can be abnormal due to not working correctly that leads to leakage and swelling internally
  • Other conditions can be present– aside from having the said disease, affected individuals can contract cataracts, glaucoma, problems with blood clotting, and hip dislocation at birth.

Usually, the mentioned symptoms above are identified at birth and should be attended to immediately.

Diagnosis & Medications

DIAGNOSIS

Several diagnostic steps are taken to diagnose this disease, starting with a physical exam. After a physical exam, the following tests would be then conducted to the patient, which are listed below:

  1. Duplex Scanning – for determining blood vessel details
  2. Scanogram – use for seeing bone images and their measurements via an X-ray technique
  3. MRI and magnetic resonance angiography – used to differentiate fat, muscle, bone, and blood vessels
  4. CT scan – used for creating 3-D images of the body for locating blood clots in veins
  5. Contrast venography – used to look for abnormal veins, blood clots, and blockages via an X-ray technique for looking a dye that has been injected to the patient’s veins

TREATMENT

There is various treatment (mostly multiple forms of therapy) for this disease, which are listed below:

  • Compression therapy
  • Physical therapy
  • Orthopedic devices
  • Epiphysiodesis
  • Embolization
  • Laser therapy
  • Laser or radiofrequency ablation of veins
  • Sclerotherapy
  • Surgery
  • Medication

Additionally, there could be more specific treatments for other complications a patient might experience, such as the below:

  • Bleeding
  • Body pain
  • Infection
  • Blood clots
  • Skin ulcers

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