Overview
Klippel-Trenaunay syndrome is a rare congenital vascular anomaly characterized by the presence of an abnormal blood vessel or lymphatic vessel. It usually affects one leg, but can involve both. This abnormal vessel, known as a lymphatic or venous malformation, can cause swelling of the affected limb and varicose veins. The affected area may also be painful or sensitive to touch. In some cases, a bump or lump called a hemangioma may develop on the affected limb. The syndrome is typically diagnosed at birth or in early childhood, and it is considered a benign condition, meaning it is not cancerous.
Understanding the disease
Development
Klippel-Trenaunay syndrome (KTS) is a rare genetic disorder that affects the development of blood vessels, soft tissues, bones, and sometimes the lymphatic system. The main features of KTS include a red birthmark (port-wine stain), malformations of veins or lymphatic vessels, and overgrowth of tissues and bones. The disorder occurs due to genetic changes (mutations) in the PIK3CA gene, which is responsible for cell growth and tissue development. These gene changes happen randomly during cell division in early development before birth. The various features of KTS develop differently:
- Port-wine stain: This birthmark is caused by extra tiny blood vessels (capillaries) in the top layer of skin. It often covers part of one leg but can involve any portion of the skin. The color may get darker or lighter with age.
- Vein malformations: Swollen, twisted veins (varicose veins) are a characteristic feature of KTS. They usually appear on the surface of the legs but can also occur in deeper veins in the arms, legs, abdomen, and pelvis. There may be spongy tissue filled with small veins in or under the skin.
- Overgrowth of bones and soft tissue: This begins in infancy and affects one leg predominantly, but it can also occur in an arm or, rarely, in the trunk or face. The overgrowth of bone and tissue creates a larger and longer extremity. In some cases, there may be fusion of fingers or toes or extra fingers or toes. The progression of KTS features can vary from person to person, ranging from mild to more extensive symptoms.
Assessment and Diagnosis
Management and Treatment
Complications
Complications of Klippel-Trenaunay syndrome (KTS) can result from atypical development of blood vessels, soft tissues, bones, and the lymphatic system. These can include:
- Port-wine stain complications: Areas of the port-wine stain may thicken over time, forming blisters (blebs) prone to bleeding and infections. Skin ulcers and poor wound healing may also occur.
- Overgrowth of tissues and bones: The overgrowth of tissues and bones can lead to bone deformities, such as a shorter affected leg, and bowing or thickening of the leg bones (camptodactyly).
- Blood flow problems: Atypical vein or lymphatic development can result in poor blood flow, which may cause pain, swelling, and skin changes in the affected limb.
- Infections: The abnormal blood vessels and lymphatic vessels can make it easier for bacteria to enter the tissues, increasing the risk of infections.
- Pain: Persistent pain may occur due to bone deformities, abnormal blood vessel development, or other complications related to KTS.
- Social and emotional issues: Individuals with KTS may experience social and emotional challenges due to the visible differences and potential physical limitations associated with the condition. It is essential to monitor and manage these complications to improve the overall quality of life for individuals with KTS.
Treatment
There is no specific cure for Klippel-Trenaunay syndrome (KTS), but treatment aims to manage symptoms and prevent complications. Treatment options may include surgery to remove excess tissue or improve lymphatic flow, compression garments to reduce swelling, medications to manage pain or treat related conditions such as blood clotting problems, and physical therapy to improve mobility and strength. Additionally, managing any associated conditions, such as cataracts or hip dislocation, is an important aspect of treatment.