Klippel-Trenaunay Syndrome (KTS) is a rare congenital condition affecting blood vessels, soft tissues, and bones, primarily in one leg. It’s characterized by three main features:
- Port-wine stain: A birthmark of reddish-purple discoloration, often resembling spilled wine, seen on the affected limb.
- Vascular malformations: Abnormal development of veins and/or lymphatic vessels, leading to varicose veins, lymphedema (swelling due to fluid buildup), and other vascular malformations.
- Soft tissue and bone overgrowth: Excessive growth of bones and soft tissues in the affected limb, resulting in leg-length discrepancy, bone deformity, and muscle weakness.
The cause of KTS is a genetic mutation, usually in the PIK3CA gene, affecting cell growth and development. However, in some cases, no genetic cause is identified. KTS can affect anyone, but it’s more common in females than males.
Symptoms of KTS vary depending on the severity and extent of the malformations. They may include:
- Visible port-wine stain birthmark
- Swelling of the affected limb (lymphedema)
- Varicose veins
- Pain and discomfort in the affected limb
- Difficulty walking or performing daily activities
- Bone growth abnormalities
- Skin ulcers
- Digestive problems (if the lymphatic system is involved)
There is no cure for KTS, but treatment focuses on managing symptoms and preventing complications. Treatment options may include:
- Compression stockings or garments: to manage lymphedema and reduce swelling.
- Surgery: to remove or sclerose (close) vascular malformations and correct bone deformities.
- Physical therapy: to improve muscle strength and flexibility.
- Pain management: to control pain and discomfort.
- Psychological support: to cope with the emotional impact of the condition.
Living with KTS can be challenging, but with proper medical care and support, individuals with KTS can lead active and fulfilling lives.
Here are some additional facts about KTS:
- It affects about 1 in 30,000 to 40,000 newborns.
- There is no known way to prevent KTS.
- Early diagnosis and treatment are important to prevent complications.
- There are several support groups and organizations for people with KTS and their families.