Klippel-Trenaunay-Weber syndrome

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [2];Associate Editor(s)-in-Chief: Kiran Singh, M.D. [3] Template:DiseaseDisorder infobox

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List of terms related to Klippel-Trenaunay-Weber syndrome

Overview

Klippel Trenaunay-Weber syndrome (KTS) is a medical condition in which blood vessels and/or lymph vessels fail to form properly.

Terminology

There exists some controversy over the terminology.

• The condition was first described by French physicians Maurice Klippel and Paul Trénaunay in 1900 and termed naevus vasculosus osteohypertrophicus.

• Frederick Parkes Weber described cases in 1907 and 1918 that were similar but not identical to those described by Klippel and Trenaunay.

• In 1965, Lindenauer proposed that when arteriovenous fistula is present, the term "Parkes Weber syndrome" be used instead. More recently, Cohen has supported separating keeping the terms distinct.

• ICD-10 currently uses the term "Klippel-Trénaunay-Weber syndrome".

Symptoms and Diagnosis

Although the cause and processes surrounding Klippel Trenaunay syndrome are poorly understood, the birth defect is diagnosed by the presence of a combination of these symptoms on approximately ¼th of the body:

• A distinctive port-wine stain with sharp borders
• Varicose veins
• Hypertrophy of bony and soft tissues, that may lead to local gigantism or shrinking.
• An overdeveloped lymph system

Note that KTS can either affect blood vessels, lymph vessels, or both. Most commonly is a mixture of the two. Those with veinous involvements are subject to an overall harder lifestyle due to the increased pain and complications.

The birth defect affects men and women equally, and is not limited to any racial group. It is not believed to be genetic in nature, although testing is ongoing. [4]

Physical Examination

Skin

Extremities

• 

  Klippel Trenaunay Syndrome. Adapted from Dermatology Atlas.

• 

  Klippel Trenaunay Syndrome. Adapted from Dermatology Atlas.

• 

  Klippel Trenaunay Syndrome. Adapted from Dermatology Atlas.

• 

  Klippel Trenaunay Syndrome. Adapted from Dermatology Atlas.

• 

  Klippel Trenaunay Syndrome. Adapted from Dermatology Atlas.

• 

  Klippel Trenaunay Syndrome. Adapted from Dermatology Atlas.

• 

  Klippel Trenaunay Syndrome. Adapted from Dermatology Atlas.

Treatment

KTS is a complex syndrome, and no single treatment is applicable for everyone. The best method for deciding on a treatment is to talk to your doctor

Debulking has been the most widely used treatment for the syndrome, and has been used for decades. Progress has been made in this method over the course of the past couple decades, but it is still an invasive procedure, and has many complications. As other choices now exist for KTS patients, this method is generally reserved as a last resort.

Mayo Clinic has reported the largest experience in managing KTS with major surgery. In 39 years at Mayo clinic the surgery teem evaluated 252 consecutive cases of KTS, of which only 145 (57.5%) could be treated by primary surgery. The immediate success rate for treating varicose veins was only 40%, excision of vascular malformation was possible in 60%, debulking operations in 65%, and correction of bone deformity and limb length correction (epiphysiodesis) had 90 % success. All the procedures demonstrated high recurrence rate in the follow up. Mayo clinic studies demonstrate that primary surgical management of KTS has limitations and non-surgical approaches needs to be developed for offering a better quality of life in these patients. Major surgery including amputation and debulking surgery does not seem to offer any benefit on a long-term basis.

Sclerotherapy is a treatment for specific veins and vascular malformations in the affected area. It involves the injection of a chemical into the abnormal veins to cause thickening and obstruction of the targeted vessels. Such treatment may allow normal blood flow to resume. It is a non-surgical medical procedure and is not nearly as invasive as debulking. Ultrasound guided foam sclerotherapy is the state of the art new treatment which could potentially close many large vascular malformations. Debulking operations can result in major deformities and have a high potential for recurrence and nerve injuries.

Compression garments are finding more use as of the last ten years. The greatest issue with KTS syndrome is that the blood flow and/or lymph flow may be impeded, and will pool in the affected area. This can cause pain, swelling, inflammations, and in some cases, even infection. Compression garments can be used to alleviate almost all of these, and when combined with elevation of the affected area and proper management, can result in a comfortable lifestyle for the patient without any surgery. Compression garments are also used lately after a debulking procedure to maintain the results of the procedure. While compression garments are not applicable for everyone, they are relatively cheap (compared to surgery), and have little side-effects. Though side-effects are generally minor or non-existent, there is a slight risk that the pooling may be moved to a more undesirable location, such as the groin.

Other treatments are also available, including other surgical procedures and massage therapy. There is not, however, any sort of cure for KTS, at this time.

External links

• The Klippel-Trenaunay Syndrome Support Group
• KTS gene discovery implications |KT syndrome
• Clínica Universitaria. Universidad de Navarra (May 4, 2007.). "New imaging techniques avoid unnecessary diagnostic tests for Klippel-Trénaunay vascular malformation". Basque Research.