Laboratory Studies

See the list below:

For the most part, patients with Klippel-Trenaunay-Weber syndrome are monitored for symptoms.
Thrombocytopenia can occur and is diagnosed after an appropriate platelet cell count has been obtained.

Imaging Studies

See the list below:

Ultrasonography
- Color duplex ultrasonography appears to be a reliable means of detecting arteriovenous malformations (AVMs) in patients older than 1 year.
- Obtain color duplex ultrasonography in any child with evidence of cardiac enlargement.
- Color duplex ultrasonography may be indicated as a screening procedure.
Radiography: When limb hypertrophy appears to be greater than 1.5 cm, scanography is performed to assess timing of epiphysiodesis.
MRI
- MRI and magnetic resonance arteriography (MRA) provide information regarding the extent of the vascular lesions, particularly deep-seated pelvic or thoracic vascular lesions.
- MRI of the pelvis or chest is indicated if venous abnormalities extend the length of the extremity.
Angiography
- Arteriography is primarily indicated when spinal cord or brain involvement is suspected.
- Venography is rarely indicated.
Nuclear medicine: Lymphoscintigraphy may be indicated in children with significant limb asymmetry to assess the lymphatic system and the risk of infection.

Treatment & Management

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Brandigi E, Torino G, Messina M, et al. Combined capillary-venous-lymphatic malformations without overgrowth in patients with Klippel-Trenaunay syndrome. J Vasc Surg Venous Lymphat Disord. 2018 Mar. 6 (2):230-6. [QxMD MEDLINE Link].
Douma RA, Oduber CE, Gerdes VE, van Delden OM, van Eck-Smit BL, Meijers JC, et al. Chronic pulmonary embolism in Klippel-Trenaunay syndrome. J Am Acad Dermatol. 2012 Jan. 66(1):71-7. [QxMD MEDLINE Link].
Harvey JA, Nguyen H, Anderson KR, et al. Pain, psychiatric comorbidities, and psychosocial stressors associated with Klippel-Trenaunay syndrome. J Am Acad Dermatol. 2018 Jun 5. [QxMD MEDLINE Link].
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Rohany M, Shaibani A, Arafat O, et al. Spinal arteriovenous malformations associated with Klippel-Trenaunay-Weber syndrome: a literature search and report of two cases. AJNR Am J Neuroradiol. 2007 Mar. 28(3):584-9. [QxMD MEDLINE Link].
Robertson DJ. Congenital arteriovenous fistulae of the extremities. Ann R Coll Surg Engl. 1956. 18:73-98.
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Yazaki M, Kaneko K, Tojo K, Miyazaki D, Shimojima Y, Ueda K. An unusual case of Klippel-Trénaunay-Weber syndrome presenting with portosystemic encephalopathy. Intern Med. 2008. 47(18):1621-5. [QxMD MEDLINE Link].
Ceballos-Quintal JM, Pinto-Escalante D, Castillo-Zapata I. A new case of Klippel-Trenaunay-Weber (KTW) syndrome: evidence of autosomal dominant inheritance. Am J Med Genet. 1996 Jun 14. 63(3):426-7. [QxMD MEDLINE Link].
Phadke SR. Klippel Trenaunay syndrome. Huret JL, ed. Atlas of Genetics and Cytogenetics in Oncology and Haematology. 2009. 153-5. [Full Text].
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Wang Q, Timur AA, Szafranski P, et al. Identification and molecular characterization of de novo translocation t(8;14)(q22.3;q13) associated with a vascular and tissue overgrowth syndrome. Cytogenet Cell Genet. 2001. 95(3-4):183-8. [QxMD MEDLINE Link]. [Full Text].
Kashiwada T, Fukuhara S, Terai K, et al. ß-catenin-dependent transcription is central to Bmp-mediated formation of venous vessels. Development. 2015 Jan 6. [QxMD MEDLINE Link].
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Media Gallery

Klippel-Trenaunay syndrome in a young person. Note the port-wine stain extending to the buttocks. These lesions can be associated with venous malformations involving the rectum and bladder.

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Author

Ravi Sunderkrishnan, MD Fellow in Nephrology, Thomas Jefferson University Hospital

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Margaret M McGovern, MD, PhD Professor and Chair of Pediatrics, Stony Brook University School of Medicine

Margaret M McGovern, MD, PhD is a member of the following medical societies: American Academy of Pediatrics, American Society of Human Genetics

Disclosure: Nothing to disclose.

Chief Editor

Maria Descartes, MD Professor, Department of Human Genetics and Department of Pediatrics, University of Alabama at Birmingham School of Medicine

Maria Descartes, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics, Society for Inherited Metabolic Disorders, International Skeletal Dysplasia Society, Southeastern Regional Genetics Group

Disclosure: Nothing to disclose.

Additional Contributors

Michael Fasullo, PhD Senior Scientist, Ordway Research Institute; Associate Professor, State University of New York at Albany; Adjunct Associate Professor, Center for Immunology and Microbial Disease, Albany Medical College

Michael Fasullo, PhD is a member of the following medical societies: Radiation Research Society, American Society for Biochemistry and Molecular Biology, Genetics Society of America, Environmental Mutagenesis and Genomics Society

Disclosure: Nothing to disclose.

Acknowledgements

Bruce Buehler, MD Professor, Department of Pediatrics and Genetics, Director RSA, University of Nebraska Medical Center

Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association

Disclosure: Nothing to disclose.

James H Tonsgard, MD Associate Professor, Department of Pediatrics and Neurology, University of Chicago; Consulting Staff, Department of Neurology, Little Company of Mary Hospital; Consulting Staff, Department of Neurology, Lakeshore Hospital

Disclosure: Nothing to disclose.

Sections Genetics of Klippel-Trenaunay-Weber Syndrome
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Genetics of Klippel-Trenaunay-Weber Syndrome Workup

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