Klippel-Trenaunay syndrome
Klippel-Trenaunay-Weber syndrome; KTS; Angio-osteohypertrophy; Hemangiectasia hypertrophicans; Nevus verucosus hypertrophicans; Capillary-lymphatico-venous malformation (CLVM)Klippel-Trenaunay syndrome (KTS) is a rare condition that is typically present at birth. The syndrome often involves port wine stains, excess growth of bones and soft tissue, and varicose veins.
Causes
KTS is caused by a genetic variation that occurs during fetal development. Why this occurs is unknown.
Symptoms
Symptoms of KTS include:
- Many port wine stains or other blood vessel problems, including dark spots on the skin
Port wine stains
A port-wine stain is a birthmark in which swollen blood vessels create a reddish-purplish discoloration of the skin.
Read Article Now Book Mark Article - Varicose veins (may be seen in early infancy, but are more likely to be seen later in childhood or adolescence)
Varicose veins
Varicose veins are swollen, twisted, and enlarged veins that you can see under the skin. They are often red or blue in color. They most often appea...
Read Article Now Book Mark Article - Unstable gait due to limb-length difference (involved limb is longer)
- Bone, vein, or nerve pain
Other possible symptoms:
- Bleeding from the rectum
- Blood in the urine
Exams and Tests
People with this condition may have excessive growth of bones and soft tissue. This occurs most commonly in the legs, but it also may affect the arms, face, head, or internal organs.
Various imaging techniques can be used to find out any change in body structures due to this condition. These also help in deciding the plan of treatment. These may include:
- MRA
MRA
Magnetic resonance angiography (MRA) is an MRI exam of the blood vessels. Unlike traditional angiography that involves placing a tube (catheter) int...
Read Article Now Book Mark Article - Endoscopic thermal ablation therapy
- X-rays
- CT scans or CT venography
CT scans
A computed tomography (CT) scan is an imaging method that uses x-rays to create pictures of cross-sections of the body. Related tests include:Abdomin...
Read Article Now Book Mark Article - MRI
MRI
A magnetic resonance imaging (MRI) scan is an imaging test that uses powerful magnets and radio waves to create pictures of the body. It does not us...
Read Article Now Book Mark Article - Color duplex ultrasonography
Color duplex ultrasonography
A duplex ultrasound is a test to see how blood moves through your arteries and veins.
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Rarely would an ultrasound during pregnancy help detect the condition.
Ultrasound
Ultrasound uses high-frequency sound waves to make images of organs and structures inside the body.
Read Article Now Book Mark ArticleSupport Groups
More information and support for people with KTS and their families can be found at:
- The Klippel-Trenaunay Syndrome Support Group -- k-t.org
- Vascular Birthmarks Foundation -- birthmark.org
Outlook (Prognosis)
Most people with KTS do well, although the condition may affect their appearance.
References
Greene AK, Mulliken JB. Vascular anomalies. In: Losee JE, Hopper RA, eds. Plastic Surgery: Volume 3: Craniofacial, Head and Neck Surgery and Pediatric Plastic Surgery. 5th ed. Philadelphia, PA: Elsevier; 2024:chap 31.
K-T Support Group website. Clinical practice guidelines for Klippel-Trenaunay syndrome (KTS). k-t.org/assets/images/content/BCH-Klippel-Trenaunay-Syndrome-Management-Guidelines-1-6-2016.pdf. Updated January 6, 2016. Accessed April 18, 2024.
Longman RE. Klippel-Trenaunay-Weber syndrome. In: Copel JA, D'Alton ME, Feltovich H, et al, eds. Obstetric Imaging: Fetal Diagnosis and Care. 2nd ed. Philadelphia, PA: Elsevier; 2018:chap 131.
McCormick AA, Grundwaldt LJ. Vascular anomalies. In: Zitelli BJ, McIntire SC, Nowalk AJ, Garrison J, eds. Zitelli and Davis' Atlas of Pediatric Physical Diagnosis. 8th ed. Philadelphia, PA: Elsevier; 2023:chap 10.
Review Date: 12/31/2023
Reviewed By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.