Fig. 23.1
Klippel-Trenaunay syndrome. (a) Localized hypertrophy. (b) Capillary hemangioma. (c) Lateral varicose veins
3.
4.
Bony and soft tissue hypertrophy is the third sign of KTS. Limb hypertrophy can be secondary to increased length (bony involvement) and/or increased girth (soft tissue involvement). Hypertrophy may be appreciated at birth. It usually progresses during the first years of life. Although lymphedema is also seen in patients, true hypertrophy of the affected soft tissues is almost always present. Occasionally, the involved limb may be atrophied rather than hypertrophied [13].
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Leg bone circumferential hypoplasia was significantly related to the presence of intramuscular lesions. A single subcutaneous venous malformation was linked with subcutaneous hypertrophy [13].
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A high association of malformations of the lymphatic system and veins in the affected limbs were noted in patients with KTS [14].
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The venous malformations can produce hemorrhage and thrombosis. It can also lead to chronic venous insufficiency, stasis dermatitis, poor wound healing, ulceration, thrombosis, angiosarcoma, and emboli [15].
Other possible symptoms include:
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Bleeding per rectum.
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Hematuria.
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Other systems can be involved with features of lymphatic obstruction, spina bifida, hypospadias, polydactyly, etc.
4.
A greater degree of hypertrophy can be seen in patients with coexisting arteriovenous malformation. Klippel-Trenaunay-Weber syndrome (KTWS) generally affects a single extremity, although cases of multiple affected limbs have been reported. The leg is the most common site, followed by the arms, the trunk, and rarely the head and the neck [16, 17].
Investigations
In many instances, a thorough history and physical examination are all that is required to diagnose Klippel-Trenaunay syndrome. However, when complications are present, imaging studies can be useful. CT venography is a useful modality for demonstrating abnormal superficial veins or aberrant lateral veins or sciatic veins along with the extent of the draining system. It is also useful for identifying the presence or absence of pelvic and abdominal extension with unilateral limb hypertrophy [18]. Duplex ultrasound is an accurate, reliable, and noninvasive way to evaluate patients with possible KTWS. MDCT angiogram may be of value in the preoperative assessment of patients with KTWS [19]. MRI is also helpful in imaging the soft tissue hypertrophy. In addition, magnetic resonance angiography can be very helpful in identifying and defining vascular malformations. In patients with associated lymphatic system abnormalities, lymphoscintigraphy can be done to exactly assess the defect in the lymphatic system and plan treatment. Colonoscopy and CT of the abdomen may be necessary to rule out rectal vascular malformations in patients with per rectal bleed.
Treatment
Treatment for Klippel-Trenaunay syndrome is conservative and symptomatic. Compression garments are useful in the management of pain and swelling. Referral to a pain clinic and/or a multidisciplinary team including a pain management specialist is recommended [10]. Debulking has been the most widely used treatment for the syndrome and has been used for decades.
In a large series from Mayo Clinic, the following procedures for KTS have been performed [15].
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Surgery for varicose veins – open as well as endovenous
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Excision of vascular malformation
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Debulking operations
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Bone deformity and limb length correction
All the procedures demonstrated high recurrence rate in the follow-up. Mayo clinic studies demonstrate that primary surgical management of KTS has limitations and nonsurgical approaches need to be developed in order to offer a better quality of life for these patients. Major surgery including amputation and debulking surgery does not seem to offer any benefit on a long-term basis. Ultrasound-guided foam sclerotherapy is the state-of-the-art new treatment which could potentially close many large vascular malformations [20]. Endovenous laser therapy has been used alone and in combination with other surgical interventions of the greater saphenous vein. It is gaining support for the management of varicosities in the general public and in patients with KTWS [21]. Laser treatment is also available to lighten or remove the port-wine birthmark in children and adults.
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