Diagnosis

Diagnosis of Klippel-Trenaunay syndrome begins with a physical exam. Referral to a vascular malformations specialist is helpful for evaluation and treatment recommendations. During the evaluation your doctor:

• Asks questions about your family and medical history
• Does an exam to look for swelling, varicose veins and port-wine stains
• Visually evaluates growth of bones and soft tissues

Several diagnostic tests can help your doctor evaluate and identify the type and severity of the condition and help determine treatment. Some tests include:

• Duplex scanning. This test uses high-frequency sound waves to create detailed images of blood vessels.
• Scanogram. Also called scanner photography, this X-ray technique helps to see images of bones and measure their lengths.
• MRI and magnetic resonance angiography. These procedures help differentiate between bone, fat, muscle and blood vessels.
• CT scan. A CT scan creates 3-D images of the body that helps look for blood clots in veins.
• Contrast venography. This procedure involves injecting a dye into veins and taking X-rays that can reveal abnormal veins, blockages or blood clots.