Klippel Trenaunay Disease, also known as Klippel-Trenaunay-Weber Syndrome (KTWS), is a rare congenital disorder characterized by the triad of capillary malformation (port-wine stain), venous malformations or varicose veins, and overgrowth of soft tissues or bone. This condition primarily affects the blood vessels, skin, and bones, typically present at birth or becomes apparent during early childhood.
The capillary malformation is a permanent birthmark that varies in size and appearance, usually found on one limb but can affect other body parts as well. The venous malformations lead to abnormal, enlarged, and twisted veins, resulting in a congenital condition like varicose veins.
The overgrowth of soft tissue or bone commonly affects the affected limb, resulting in an unequal limb size. This overgrowth may involve muscles, fatty tissue, skin, and sometimes includes bone hypertrophy, causing limb length discrepancy or deformity.
Klippel Trenaunay Disease is believed to be caused by an abnormal development of blood vessels during fetal development. Although the exact cause is unknown, it is thought to be related to genetic mutations occurring sporadically.
Symptoms of this disorder may vary widely among individuals, with some experiencing minimal complications, while others might have more severe symptoms, such as chronic pain, blood clotting, skin infection, or lymphatic abnormalities.
Treatment aims to manage the symptoms and complications associated with the condition and typically includes therapies such as compression stockings, pain management, surgical interventions to address vascular abnormalities or overgrowth, and supportive care to improve the quality of life for those affected.
