Genetics of Klippel-Trenaunay-Weber Syndrome Treatment & Management

Updated: Apr 08, 2022
  • Author: Ravi Sunderkrishnan, MD; Chief Editor: Maria Descartes, MD  more...
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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. [18]

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). 

As a result of gain-of-function mutations in the gene encoding the catalytic alpha subunit of phosphatidylinositol-3 kinase (PIK3CA), activation of the PI3K-alpha and Akt-signaling cellular transformation occurs. PIK3CA gene mutations have been found in many, but not all, patients with Klippel-Trenaunay syndrome. [19]

In April 2022, alpelisib (Vijoice) became the first drug approved by the US Food and Drug Administration (FDA) for patients aged 2 years or older who have severe manifestations of PIK3CA-related overgrowth spectrum (PROS) and are in need of systemic therapy. FDA approval of alpelisib was supported by real world evidence from the open-label EPIK-P1 trial. The retrospective chart review found improvement in symptoms and manifestations associated with PROS as well as decreased target lesion volume, in patients treated with alpelisib. [20]

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Surgical Care

There are subtle differences between the surgical interventions for Klippel-Trenaunay syndrome and Parkes Weber syndrome. 

Servelle reported successful surgical intervention (resection or ligation of abnormal blood vessels) in more than 700 patients with Klippel-Trenaunay syndrome. [21] 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. [22] Venous varicosities recur after surgery in 90% of patients. Intravenous sclerotherapy has been proposed as an alternative to surgical intervention.

Clinicians at all centers agree that a leg-length discrepancy of more than 2 cm warrants epiphysiodesis in Klippel-Trenaunay syndrome. However, it is not preferred in Parkes Weber syndrome, since it can exacerbate the fast-flow lesions, especially if near the knee. [17]

Debulking surgeries to remove excess girth, while possible in Klippel-Trenaunay syndrome, are best avoided in Parkes Weber syndrome due to the arteriovenous malformations.

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Consultations

See the list below:

  • 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.

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Activity

 

See the list below:

  • Patient activities are as tolerated.

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