Klippel-Trénaunay Syndrome

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It is possible that the main title of the report Klippel-Trénaunay Syndrome is not the name you expected.

Disorder Subdivisions

  • None

General Discussion

Klippel-Trenaunay syndrome (KTS) is a rare disorder that is present at birth (congenital) and is characterized by a triad of cutaneous capillary malformation ("port-wine stain"), lymphatic anomalies, and abnormal veins in association with variable overgrowth of soft tissue and bone. KTS occurs most frequently in the lower limb and less commonly in the upper extremity and trunk.

The eponym KTS has generated controversy in the medical literature since the first report of the condition in the early 20th century. The French physicians, Klippel and Trenaunay, described patients with capillary stains (improperly called "hemangiomas" at that time), venous varicosities, and overgrowth. At about the same time, the English dermatologist Parkes Weber reported the combination of "hemangiomas" and overgrowth of a limb. For many years, the names of all three physicians were linked as a confusing (and incorrect) term "Klippel-Weber-Trenaunay syndrome," which still is (unfortunately) used to this day.

Since the latter 20th century, it is well-recognized that Parkes Weber and Klippel-Trenaunay syndromes are entirely different. Parkes Weber syndrome consists of fast-flow, multiple microscopic arteriovenous connections with variable capillary staining of an enlarged limb (usually the lower extremity). By genetic testing, many of these patients have a dominant, germline mutation in the gene RASA1.

In contrast, KTS is a slow-flow combined vascular disorder involving abnormal capillaries (C), lymphatics (L) and veins (V). Therefore, many investigators use the abbreviation CLVM, rather than KTS, and restrict the designation for patients who have all three vascular anomalies. Other authors apply the KTS term more broadly and include patients with only capillary stain (CM) or only capillary and venous anomalies (CVM) in the limb in the absence of lymphatic abnormalities.

Once the genetic cause for KTS is discovered, it will be possible to more precisely designate patients with these various combinations of vascular anomalies.

Supporting Organizations

Hemihypertrophy Support

4581 Magnolia Dr.
Suffolk, VA 23435
Tel: (757)615-3686
Email: hemihypertrophy@yahoogroups.com

Klippel-Trenaunay Support Group

1471 Greystone Lane
Milford, OH 45150
Tel: (513)722-7724
Fax: (952)925-2596
Email: ktnewmembers@gmail.com
Website: http://k-t.org/

Lymphovenous Canada

8 Silver Ave
Ontario, M6R 1X8
Tel: 4165332428
Email: info@lymphovenous-canada.ca
Website: http://www.lymphovenous-canada.ca

March of Dimes

1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Email: AskUs@marchofdimes.org or preguntas@nacersano.org
Website: http://www.marchofdimes.org and nacersano.org

National Organization of Vascular Anomalies

PO Box 38216
Greensboro, NC 27438-8216
Email: admin@mail.novanews.org
Website: http://www.novanews.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

Last Updated:  4/27/2015
Copyright  2015 National Organization for Rare Disorders, Inc.