What is Klippel-Trenaunay syndrome (KTS)?

From the Research

Klippel-Trenaunay syndrome (KTS) is a rare congenital vascular disorder characterized by a triad of symptoms: port-wine stains, varicose veins, and overgrowth of soft tissues and bones.

Key Characteristics of KTS

• The condition is sporadic and clinically rare in occurrence, with a complicated etiology that includes genetic and environmental factors 1.
• Symptoms of KTS include pain, swelling, lymphedema, bleeding, superficial thrombophlebitis, and deep vein thrombosis 1.
• The etiology remains indistinct, but it has been attributed to both genetic and environmental factors 1.

Diagnosis and Management

• Diagnosis is typically made through a thorough history and clinical examination, with noninvasive imaging techniques used to evaluate the disease in patients with certain complications 1.
• A multidisciplinary approach is essential for the proper management of KTS patients, with treatment focusing on managing symptoms and preventing complications.
• The recommended approach includes:
  1. Compression therapy: Use compression garments daily to reduce swelling and improve circulation.
  2. Physical therapy: Regular exercises to maintain muscle strength and joint mobility.
  3. Pain management: Over-the-counter pain relievers like ibuprofen or prescription medications as needed.
  4. Laser therapy: For treating port-wine stains and some superficial vascular malformations.
  5. Sclerotherapy: Injection of a solution to shrink varicose veins.
  6. Surgery: In severe cases, to correct bone overgrowth or remove problematic blood vessels.
  7. Regular follow-ups: Monitor for complications like deep vein thrombosis or cellulitis.

Recent Findings

• A recent study found that superficial and deep venous interventions, including iliofemoral venous stenting, are safe and effective in patients with KTS when conservative therapy has failed 2.
• The study also found that an aggressive perioperative deep vein thrombosis prophylaxis protocol should be in place to reduce thromboembolic complications in these patients 2.

Quality of Life

• While KTS is typically non-progressive, symptoms can worsen over time, making early intervention and consistent management crucial for improving quality of life 1.
• Patients should avoid trauma to affected areas and maintain good skin hygiene to prevent infections 1.