eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Genetics

Klippel-Trenaunay-Weber Syndrome: Treatment & Medication

Author: Bruce Buehler, MD, Professor, Department of Pediatrics, Pathology and Microbiology, Executive Director, Hattie B Munroe Center for Human Genetics, University of Nebraska Medical Center
Contributor Information and Disclosures

Updated: Jul 21, 2009

Treatment

Medical Care

  • Most patients with Klippel-Trenaunay syndrome (KTS) can be conservatively treated with compression stockings or pneumatic pumps. Compression stockings decrease edema, act as a barrier for minor trauma, and reduce venous insufficiency.
  • In most series, patients with thrombophlebitis have been acutely treated without long-term prophylactic anticoagulants. However, aspirin is probably indicated in all patients.
  • Monitor cardiac status in all patients with arteriovenous malformations (AVMs).

Surgical Care

  • Servelle reported successful surgical intervention (resection or ligation of abnormal blood vessels) in more than 700 patients with Klippel-Trenaunay syndrome.4 Most medical centers have tried to avoid surgical intervention. Surgical treatment can be complicated by infection, lymph seepage, and skin breakdown. In a series by the Mayo Clinic, surgical ligation and stripping of varicose veins produced improvement in only 40% of patients.5 Venous varicosities recur after surgery in 90% of patients. Intravenous sclerotherapy has been proposed as an alternative to surgical intervention in Klippel-Trenaunay syndrome and to embolization in Parkes Weber syndrome. Reports have detailed the use of a sclerosant in microfoam.
  • Clinicians at all centers agree that a leg length discrepancy of more than 2 cm warrants epiphysiodesis. Hypertrophied digits with severe deformity and infection may require amputation.

Consultations

  • Psychologist: Psychological support is important because of the cosmetic effects of Klippel-Trenaunay syndrome and Parkes Weber syndrome. A lay support group, the Klippel-Trenaunay Syndrome Support Group, is available.

Activity

  • Patient activities are as tolerated.

Medication

Antiplatelet agents

These agents inhibit platelet function by blocking cyclooxygenase production and subsequent aggregation.


Aspirin (Anacin, Ascriptin, Bayer Aspirin)

Inhibits prostaglandin synthesis preventing formation of platelet-aggregating thromboxane A2. May be used in low dose to inhibit platelet aggregation and improve complications of venous stases and thrombosis.

Adult

1-2 mg/kg/d PO for antiplatelet effect

Pediatric

Administer as in adults

Effects may decrease with antacids and urinary alkalinizers; corticosteroids decrease salicylate serum levels; additive hypoprothrombinemic effects and increased bleeding time may occur with coadministration of anticoagulants or other antiplatelet agents; may antagonize uricosuric effects of probenecid and increase toxicity of phenytoin and valproic acid

Documented hypersensitivity; liver damage; hypoprothrombinemia; vitamin K deficiency; bleeding disorders; asthma

Pregnancy

C - Fetal risk revealed in studies in animals but not established or not studied in humans; may use if benefits outweigh risk to fetus

D - Fetal risk shown in humans; use only if benefits outweigh risk to fetus

Precautions

Pregnancy category D in third trimester; may cause transient decrease in renal function; may exacerbate chronic kidney disease

Corticosteroids

These agents elicit anti-inflammatory and immunosuppressive properties and cause profound and varied metabolic effects. Corticosteroids modify the body's immune response to diverse stimuli.


Prednisolone (Pediapred)

Used to treat coagulopathy. Decreases inflammation by suppressing migration of polymorphonuclear leukocytes and reducing capillary permeability.

Adult

5-60 mg/d PO

Pediatric

2 mg/kg/d PO

Decreases effects of salicylates and toxoids (for immunizations); phenytoin, carbamazepine, barbiturates, and rifampin decrease effects

Documented hypersensitivity; viral, fungal, or tubercular skin lesions

Pregnancy

C - Fetal risk revealed in studies in animals but not established or not studied in humans; may use if benefits outweigh risk to fetus

Precautions

Caution in hyperthyroidism, osteoporosis, cirrhosis, nonspecific ulcerative colitis, peptic ulcer disease, diabetes, and myasthenia gravis

More on Klippel-Trenaunay-Weber Syndrome

Overview: Klippel-Trenaunay-Weber Syndrome
Differential Diagnoses & Workup: Klippel-Trenaunay-Weber Syndrome
Treatment & Medication: Klippel-Trenaunay-Weber Syndrome
Follow-up: Klippel-Trenaunay-Weber Syndrome
Multimedia: Klippel-Trenaunay-Weber Syndrome
References
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References

  1. Robertson DJ. Congenital arteriovenous fistulae of the extremities. Ann R Coll Surg Engl. 1956;18:73-98.

  2. 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. [Medline].

  3. Brouillard P, Vikkula M. Genetic causes of vascular malformations. Hum Mol Genet. Oct 15 2007;16 Spec No. 2:R140-9. [Medline].

  4. Servelle M. Klippel and Trenaunay's syndrome. 768 operated cases. Ann Surg. Mar 1985;201(3):365-73. [Medline].

  5. Jacob AG, Driscoll DJ, Shaughnessy WJ, et al. Klippel-Trenaunay syndrome: spectrum and management. Mayo Clin Proc. Jan 1998;73(1):28-36. [Medline].

  6. Berry SA, Peterson C, Mize W, et al. Klippel-Trenaunay syndrome. Am J Med Genet. Oct 2 1998;79(4):319-26. [Medline].

  7. Cabrera J, Cabrera J, Garcia-Olmedo MA, Redondo P. Treatment of venous malformations with sclerosant in microfoam form. Arch Dermatol. Nov 2003;139(11):1409-16. [Medline].

  8. 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. Jun 14 1996;63(3):426-7. [Medline].

  9. Cohen MM. Klippel-Trenaunay syndrome. Am J Med Genet. Jul 31 2000;93(3):171-5. [Medline].

  10. Huiras EE, Barnes CJ, Eichenfield LF, et al. Pulmonary thromboembolism associated with Klippel-Trenaunay syndrome. Pediatrics. Oct 2005;116(4):e596-600. [Medline].

  11. Kasabach HH, Merritt KK. Capillary hemangioma with extensive purpura: a report of a case. Am J Dis Child. 1940;59:1063-70.

  12. Kinmonth JB, Young AE, Edwards JM, et al. Mixed vascular deformities of the lower limbs, with particular reference to lymphography and surgical treatment. Br J Surg. Dec 1976;63(12):899-906. [Medline].

  13. Klippel M, Trenaunay P. Du naevus variqueux osteohypertrophique. Arch Gen Med. 1900;185:641-72.

  14. Lee A, Driscoll D, Gloviczki P, et al. Evaluation and management of pain in patients with Klippel-Trenaunay syndrome: a review. Pediatrics. Mar 2005;115(3):744-9. [Medline].

  15. Maari C, Frieden IJ. Klippel-Trenaunay syndrome: the importance of "geographic stains" in identifying lymphatic disease and risk of complications. J Am Acad Dermatol. Sep 2004;51(3):391-8. [Medline].

  16. Samuel M, Spitz L. Klippel-Trenaunay syndrome: clinical features, complications and management in children. Br J Surg. Jun 1995;82(6):757-61. [Medline].

  17. Stephan MJ, Hall BD, Smith DW, Cohen MM Jr. Macrocephaly in association with unusual cutaneous angiomatosis. J Pediatr. Sep 1975;87(3):353-9. [Medline].

  18. Stickler GB. Klippel-Trenaunay syndrome. In: Gomez MR, ed. Neurocutaneous Diseases: A Practical Approach. Butterworth-Heinemann; 1987:368-75.

  19. Tian XL, Kadaba R, You SA, et al. Identification of an angiogenic factor that when mutated causes susceptibility to Klippel-Trenaunay syndrome. Nature. Feb 12 2004;427(6975):640-5. [Medline].

  20. Weber PF. Angioma: formation in connection with hypertrophy of limbs and hemihypertrophy. Br J Dermatol. 1907;19:231-5.

  21. Whelan AJ, Watson MS, Porter FD, Steiner RD. Klippel-Trenaunay-Weber syndrome associated with a 5:11 balanced translocation. Am J Med Genet. Dec 4 1995;59(4):492-4. [Medline].

  22. Young AE, Ackroyd J, Baskerville P. Combined vascular malformations. In: Mulliken JB, Young AE, eds. Vascular Birthmarks: Hemangiomas and Malformations. WB Saunders Co; 1988:246-74.

  23. Ziyeh S, Spreer J, Rossler J, et al. Parkes Weber or Klippel-Trenaunay syndrome? Non-invasive diagnosis with MR projection angiography. Eur Radiol. Nov 2004;14(11):2025-9. [Medline].

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Further Reading

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Keywords

Parkes Weber syndrome, PWS, Klippel-Trenaunay syndrome, KTS, Kasabach-Merritt syndrome, angioosteohypertrophy syndrome, cutaneous capillary malformation, congenital vascular nevus, capillary hemangioma, port-wine stain, Klippel-Trenaunay-Weber syndrome, capillary hemangioma, port-wine stain, arteriovenous malformation, AVM, consumptive coagulopathy, mental retardation, treatment, diagnosis

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Contributor Information and Disclosures

Author

Bruce Buehler, MD, Professor, Department of Pediatrics, Pathology and Microbiology, Executive Director, Hattie B Munroe Center for Human Genetics, 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.

Medical Editor

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
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

Margaret M McGovern, MD, PhD, Professor and Chair of Pediatrics, Stony Brook University, New York
Margaret M McGovern, MD, PhD is a member of the following medical societies: American Academy of Pediatrics and American Society of Human Genetics
Disclosure: Genzyme Grant/research funds PI

CME Editor

Paul D Petry, DO, FACOP, FAAP, Consulting Staff, Freeman Pediatric Care, Freeman Health System
Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association
Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD, Professor, Department of Pediatrics, Pathology and Microbiology, Executive Director, Hattie B Munroe Center for Human Genetics, 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.

 
 
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