From the Guidelines
Klippel-Trenaunay syndrome is a rare congenital vascular disorder characterized by a triad of symptoms: port-wine stains, venous malformations or varicose veins, and soft tissue or bone overgrowth typically affecting one limb. The condition is present at birth and is caused by genetic mutations that occur during early fetal development, though it's not usually inherited 1. Some key characteristics of Klippel-Trenaunay syndrome include:
- Port-wine stains (capillary malformations)
- Venous malformations or varicose veins
- Soft tissue or bone overgrowth typically affecting one limb The severity varies widely among patients, with some experiencing mild symptoms while others face significant complications. Treatment is primarily supportive and symptom-based, often requiring a multidisciplinary approach, and may include:
- Compression garments for swelling
- Laser therapy for port-wine stains
- Occasionally surgery for severe venous malformations or limb discrepancies
- Physical therapy to maintain mobility and strength in affected limbs
- Pain management may be necessary for some patients While there is no cure for Klippel-Trenaunay syndrome, proper management can significantly improve quality of life and prevent complications such as blood clots, infections, and bleeding from abnormal vessels.
From the Research
Definition and Characteristics of Klippel-Trenaunay Syndrome
- Klippel-Trenaunay syndrome (KTS) is a rare, sporadic, complex malformation characterized by the clinical triad of capillary malformations (port wine stain), soft tissue and bone hypertrophy or hypotrophy of usually one lower limb, and atypical, mostly lateral varicosity 2.
- It is a mixed vascular malformation, with predominant capillary, venous, and lymphatic components, without significant arteriovenous shunting 2.
- KTS is a congenital disorder, characterized by the classical triad of port-wine stains, varicosities along with bone and soft tissue hypertrophy 3.
Symptoms and Complications
- Symptoms of Klippel-Trenaunay Syndrome include pain, swelling, lymphedema, bleeding, superficial thrombophlebitis, and deep vein thrombosis 3.
- Pain is a real and debilitating problem in these patients, with 9 common causes of pain in KTS, including chronic venous insufficiency, cellulitis, superficial thrombophlebitis, deep vein thrombosis, calcification of vascular malformations, growing pains, intraosseous vascular malformation, arthritis, and neuropathic pain 4.
Diagnosis and Management
- In most cases, a thorough history and clinical examination is enough for the diagnosis of Klippel Trenaunay Syndrome 3.
- Noninvasive imaging techniques are used for the diagnosis and evaluation of the disease in patients when certain complications are present 3.
- Management is largely conservative, with compression being the hallmark of conservative management, and laser can be used to treat port wine stains 2.
- A multidisciplinary approach to management of KTS is warranted, with surgical treatment considered for patients with patent deep veins and symptomatic varicose veins and VMs 2, 5.