What is Klippel-Trenaunay Syndrome?
Klippel-Trenaunay syndrome (KTS) is a rare congenital vascular disorder characterized by a triad of symptoms: abnormal development of blood vessels (vascular malformations), overgrowth of soft tissues and bones (hypertrophy), and port-wine stains or other types of skin discoloration.
This condition typically affects one limb, although it can occasionally involve multiple limbs.
Side Effects of Klippel-Trenaunay Syndrome
Patients with Klippel-Trenaunay syndrome may experience a range of complications, including:
- Venous Malformations: These can lead to chronic pain, swelling (edema), and an increased risk of blood clots (deep vein thrombosis).
- Lymphatic Malformations: Resulting in lymphedema, which causes swelling due to impaired lymphatic drainage.
- Bony and Soft Tissue Overgrowth: This can cause functional impairment and cosmetic concerns.
- Port-Wine Stains: These flat, pink, red, or purple birthmarks can be extensive and affect the appearance.
How is Klippel-Trenaunay Syndrome Diagnosed?
Diagnosis of Klippel-Trenaunay syndrome involves a combination of clinical evaluation and imaging studies:
- Physical Examination: Identification of characteristic signs such as vascular malformations, limb overgrowth, and skin discoloration.
- Imaging: Ultrasound, MRI, or CT scans may be used to visualize the extent and nature of vascular and soft tissue abnormalities.
Potential Treatment of Klippel-Trenaunay Syndrome
Management of Klippel-Trenaunay syndrome is typically multidisciplinary and may include:
- Compression Therapy: To manage swelling and improve circulation.
- Sclerotherapy or Embolization: Procedures to reduce the size of vascular malformations by injecting a solution or blocking blood flow.
- Surgery: To correct deformities, reduce overgrowth, or manage complications like venous insufficiency.
- Medical Management: Including medications to alleviate pain, prevent blood clots, or manage infections in case of ulcerations.
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