Klippel–Trénaunay–Weber syndrome
| Klippel–Trénaunay Syndrome | |
|---|---|
 |
|
| MRI | |
| Specialty | medical genetics |
| Classification |
· ·
|
|---|---|
| External resources |
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.
The classical triad of Klippel-Trenaunay syndrome consists of:
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.
The birth defect affects men and women equally, and is not limited to any racial group. It is not certain if it is genetic in nature, although testing is ongoing. There is some evidence that it may be associated with a translocation at t(8;14)(q22.3;q13). Some researchers have suggested AGGF1 has an association.
...
Wikipedia