Manifestations of Klippel-Trenaunay Syndrome

A 7-year-old girl presented with pain and discomfort in the left leg that was exacerbated by physical activity. She had been born with a port-wine stain on the left knee. As her mobility increased, she occasionally complained of discomfort in the left leg.

Klippel-Trenaunay syndrome (KTS) was diagnosed at age 3 years after an evaluation for swelling, discoloration, and pain of the left leg. Magnetic resonance angiography and venography had revealed abnormally dilated, tortuous veins in the subcutaneous tissues from the distal thigh to the posterolateral calf with involvement of the proximal anterior tibial muscle. The parents had elected for conservative management with observation.

At the patient’s current visit, she was noted to have 2 erythematous to bluish vascular plaques on the superior and inferior aspects of the patellar surface with subcutaneous nodular swellings and varicosities predominantly on the lateral aspect of the lower leg. Edema and hypertrophy of the left limb were apparent. KTS usually has no apparent racial or gender predilection, and studies show no definitive gene localization.¹ The presentation varies from mild cases with a small portwine stain and few varicosities to severe cases with limb overgrowth, pain, recurrent cellulitis, thrombophlebitis, thromboembolism, and visceral bleeding from vascular malformations.²

Capillary malformations are frequently the first abnormality observed. Varicosities most often present when the child begins to walk.² Limb length discrepancies progress at variable rates but typically stabilize around puberty.³ A variant of KTS, Parkes Weber syndrome presents with an arteriovenous fistula component.⁴ The workup includes imaging studies to assess the type, extent, and severity of vascular malformations. Doppler ultrasonography is the initial study of choice, although several other methods are available. Evaluation of limb length discrepancy with plain films of the long bones is recommended. MRI is helpful in evaluating soft tissue hypertrophy and may be used to determine the degree of infiltration and evaluate deeper tissues before treatment.² Because KTS is a combined malformation syndrome, a multidisciplinary approach to management is advised.

Treatment depends on disease severity and is largely conservative, focusing on symptom relief.⁴ Compression therapy can alleviate venous insufficiency and lymphedema, although diuretics may be needed for significant fluid collection. Physical therapy may improve limitations secondary to limb overgrowth. For patients with a leg length difference of less than 1.5 cm, heel inserts or special orthopedic footwear may prevent vertebral scoliosis.⁵ Patients with a leg length discrepancy of greater than 2 cm should be referred for orthopedic surgery.⁵ Postoperative anticoagulation should be considered in patients with KTS because they are at higher risk for thrombotic complications.⁴ Similarly, female patients with KTS are generally advised to avoid oral contraceptives because of their prothrombotic potential.⁴

Patients with complications, such as infection and thrombus formation (including pulmonary emboli), require appropriate treatment and evaluation for more aggressive intervention. For patients who do not respond to conservative approaches or who desire more definitive results, other therapies are available. Port-wine stains may be treated with pulsed dye lasers.⁴ Venous sclerotherapy, stripping, or ligation may be used to treat symptomatic malformations, although recurrence is common.² For this child, we recommended custom-fit hose with 30 mm Hg compression. She was referred tointerventional radiology for consideration of embolization or surgery and to orthopedics for treatment of limb length discrepancy. The psychological impact of the physical deformity should not be overlooked. We encouraged this patient and her family to participate in a support group.