Klippel–Trénaunay syndrome

Klippel–Trénaunay Syndrome
MRI
Classification and external resources
Specialty	medical genetics
ICD-10	Q87.2 (EUROCAT Q87.21)
ICD-9-CM	759.89
OMIM	149000
DiseasesDB	29324
MedlinePlus	000150
eMedicine	derm/213
MeSH	D007715
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Klippel–Trénaunay syndrome (KTS or KT), formerly Klippel–Trénaunay–Weber syndrome and sometimes angioosteohypertrophy syndrome and hemangiectatic hypertrophy, is a rare congenital medical condition in which blood vessels and/or lymph vessels fail to form properly. The three main features are nevus flammeus (port-wine stain), venous and lymphatic malformations, and soft-tissue hypertrophy of the affected limb. It is similar to, though distinctly separate from, the less common Parkes-Weber syndrome.

There is disagreement as to how cases of KTS should be classified if there is an arteriovenous fistula present. Although several authorities have suggested that the term Parkes Weber syndrome is applied in those cases,ICD-10 currently uses the term "Klippel–Trénaunay–Weber syndrome".

The birth defect is diagnosed by the presence of a combination of these symptoms (often on approximately ¼ of the body, though some cases may present more or less affected tissue):

In some cases, port-wine stains (capillary port wine type) may be absent. Such cases are very rare and may be classified as "atypical Klippel–Trenaunay syndrome".

KTS can either affect blood vessels, lymph vessels, or both. The condition most commonly presents with a mixture of the two. Those with venous involvement experience increased pain and complications, such as venous ulceration in the lower extremities.

Those with large AVMs are at risk of formation of blood clots in the vascular lesion, which may migrate to the lungs (pulmonary embolism). If there is large-volume blood flow through the lesion, "high-output heart failure" may develop due to the inability of the heart to generate sufficient cardiac output.

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