Klippel-Trenaunay syndrome

What causes Klippel-Trenaunay syndrome?

Most cases of KTS are caused by mutations in the PIK3CA gene. However, the mutation in the gene is not present in every cell of the body and is not inherited or passed down from either parent. The type of genetic mutation which causes KTS is called a somatic mutation. These somatic mutations occur after conception (after the egg and sperm join together), but probably happen very early in development. Since somatic mutations are only present in some of the body's cells, the signs and symptoms of KTS usually only affect specific areas of the body. The PIK3CA gene provides instructions for making a protein which is part of an enzyme that is important for cell growth and division (proliferation), movement (migration) of cells, and cell survival. Mutations in the PIK3CA gene result in increased cell proliferation leading to abnormal growth of the bones, soft tissues, and blood vessels.

Some researchers believe all KTS is caused by somatic mutations in the PIK3CA gene and when a mutation cannot be found, the person may actually have a different disorder. Other researchers believe KTS can be caused by mutations in other yet to be discovered genes.

Last updated on 05-01-20

Is Klippel Trenaunay syndrome (KTS) inherited?

KTS is not known to be inherited. Since KTS is caused by somatic mutations and this type of mutation is not present in every cell of the body, the risk a child to be born with KTS to a parent with KTS is similar to the general population risk. In other words, children of a parent with KTS have the same risk of having KTS as someone whose parents do not have KTS. As far as we know, there are no confirmed reported cases of KTS being passed down to the children of a person with KTS.

Last updated on 05-01-20

I was born with Klippel-Trenaunay syndrome and am now in my 40s. I have a port wine stain on my chest and my right arm and hand are much larger than that of the left. In the past month my right arm has been very painful and seems to have grown larger. Is it possible for the affected limb to experience additional growth and pain in adulthood?

It is our understanding that Klippel-Trenaunay syndrome is not always a stable disease. Some patients who have not experienced any progression of their disease for years, may notice a change in their symptoms at some point as they age.

In some cases, women have reported an increase in symptoms during times of hormonal change such as puberty, menopause, perimenopause and pregnancy. These symptoms may include increased swelling of the affected limb, tingling sensation/pain, change in color and heaviness in the affected limb, fatigue, headache, heart palpitations, exercise intolerance, and increase in clotting times. If progression of the disease arises, it is strongly recommended to be evaluated by a physician to rule out any serious complications.

Last updated on 05-01-20

Is there a cure or treatment for Klippel-Trenaunay syndrome (KTS)?

There is no cure for KTS. Treatment is symptomatic and supportive. Conservative treatments seem most effective while limiting the chances for undesired side effects. This may include the use of elastic garments and pumps to relieve lymphedema and protect limbs from trauma or orthopedic devices for discrepancies in limb length. Laser therapy may be used to diminish or eliminate some skin lesions (port-wine stains). Surgery may be used for tissue debulking, vein repair, or to correct uneven growth in the limbs.

Last updated on 05-01-20

Name: Vascular Cures 274 Redwood Shores Parkway, #717
Redwood City, CA, 94065, United States
Phone: +1-650-368-6022 Email: info@vascularcures.org Url: https://vascularcures.org/
Name: Klippel-Trenaunay Support Group K-T Support Group 1471 Greystone Lane
Milford, OH, 45150, United States
Phone: +1-513-722-7724 Email: support@k-t.org Url: https://k-t.org/ Contact form: https://k-t.org/about-us/contact
Name: Society for Vascular Surgery 633 N. St. Clair 24th Floor
Chicago, IL, 60611 , United States
Phone: 312-334-2300 Toll Free: 800-258-7188 Fax : 312-334-2320 Email: vascular@vascularsociety.org Url: http://www.vascularweb.org/index.html
Name: Sturge-Weber Foundation P.O. Box 418
Mt. Freedom, NJ, 07970 , United States
Phone: 973-895-4445 Toll Free: 800-627-5482 Fax : 973-895-4846 Email: SWF@sturge-weber.org Url: http://www.sturge-weber.org
Name: National Organization of Vascular Anomalies PO Box 38216
Greensboro, NC, 27438-8216, United States
Email: khall@novanews.org Url: http://www.novanews.org
Name: Vascular Birthmarks Foundation VBF PO Box 106 Latham
NY, 12110,
Phone: (877) VBF-4646 Email: vbfpresident@gmail.com Url: http://birthmark.org/

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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