Congenital Mixed Syndromes

Klippel-Trenaunay Syndrome (KTS)

Klippel-Trenaunay Syndrome or Klippel-Trenaunay-Weber Syndrome or KTS refers to the triad of port-wine stains, bony and/or soft tissue overgrowth, and slow-flow venous / lymphatic malformations. The diagnosis is made if 2 of these 3 criteria are present. The cause is unknown.

The venous malformations in KTS can be quite extensive and involve bones, joints, muscles, as well as the skin and the underlying fat. The major veins of the limb themselves can also have issues with reflux and cause pooling of blood and fluids into an already overgrown limb. This leads to high pressures within the compartments of the limb and increases the likelihood of debilitating pain particularly with walking or prolonged standing. Furthermore, there is an increased risk of recurrent infections as well as clotting of the veins. Ulcerations and skin sloughing as a result of these very high pressures are also not uncommon.

The mainstay of treatment for KTS remains appropriate grade compression stockings and limb elevation. Direct stick embolization of the underlying venous malformation can be performed in multiple sessions. This can help reduce symptoms significantly. Laser therapy is also available for the port-wine stain component. However, what can be most helpful is addressing the major vein trunks that run superficially along the limb. Previously, it was thought that patients with KTS have an underdeveloped or absent deep vein system. As a result, treating or ablating the superficial veins of the limb was deemed inappropriate and detrimental. It has been shown that many patients with KTS do, in fact, have a functioning, open deep system. This has to be delineated and identified appropriately with newer diagnostic modalities that are ultrasound-based. As a result, treatment of the more superficial components of the venous system in patients with KTS ca be safely performed with significant improvement in symptoms.

Parkes-Weber Syndrome

This is very similar to Klippel-Trenaunay Syndrome with the exception that instead of the slow-flow venous malformations of KTS, there are high-flow arteriovenous malformations associated with the limb. Treatment is primarily catheter-based as with other high-flow arteriovenous mlaformations.

Blue Rubber Bleb Nevus Syndrome

Also known as Bean Syndrome, this refers to presence of multiple, widespread foci of isolated slow-flow venous malformations dispersed throughout the skin and underlying tissue as well as the intestines, and the internal organs. Refractory bleeding is a concern so endoscopy is often necessary. Direct stick embolization in conjunction with surgical excision can address the most symptomatic skin and soft tissue lesions. More extensive surgery may be necessary for internal bleeding that does not respond to endoscopic intervention.

CLOVES Syndrome

CLOVES is a mnemonic that refers to Congenital Lipomatous Overgrowth, Vascular malformations, Epidermal nevi, and spine deformities. It is a disease of infants and young children. It features fatty tissue overgrowth throughout the body sparing the head and neck. The feet and limbs are very commonly affected as well as the trunk. Multiple foci of venous and/or lymphatic malformations are present. A characteristic red-purple rash called epidermal nevus is also identified. A component of this may be simply a port-wine stain representing a capillary malformation. Furthermore, spinal deformities such as scoliosis and high-flow arteriovenous malformations affecting the spinal cord are detected.

The cause is unknown and treatment is mostly palliative. Treatment approach is truly multidisciplinary requiring the expertise of many physicians including vascular interventionalists, orthopaedic surgeons, plastic surgeons, pediatric surgeons, pediatric hematologists, and neurosurgeons and neurointerventonalists.

Hereditary Hemorrhagic Telangiectasias (HHT)

HHT or Osler-Webe-Rendu Syndrome refers to malformations of small end arteries which can lead o formation of tiny arteriovenous malformations affecting the skin, internal organs, aerodigestive tract including the mouth, nose, and lungs. This is a hereditary disorder which is passed down from parents to children. The presenting signs include multiple nosebleeds, skin rash particularly on the palms of hands and feet, and presence of ateriovenous malformations within the internal organs.

One of the most serious complications associated with HHT is presence of arteriovenous malformations within the pulmonary circulation. These can by asymptomatic or present with bloody cough. Nevertheless, treatment is almost always necessary as clots from the limbs can be shunted through this malformation and wind up in the brain. Once in the brain, the clot can have devastating complications including stroke and infection with formation of a brain abscess. Emboliztion of these pulmonary malformations is, therefore, highly recommended.

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