About ktw syndrome

What is ktw syndrome?

Klippel-Trenaunay syndrome (KTS) is a rare disorder that is present at birth (congenital) and is characterized by a triad of cutaneous capillary malformation ("port-wine stain"), lymphatic anomalies, and abnormal veins in association with variable overgrowth of soft tissue and bone. KTS occurs most frequently in the lower limb and less commonly in the upper extremity and trunk. KTS equally affects males and females.

The eponym KTS has generated controversy in the medical literature since the first report of the condition in the early 20th century. The French physicians, Klippel and Trenaunay, described patients with capillary stains (improperly called "hemangiomas" at that time), venous varicosities, and overgrowth. At about the same time, the English dermatologist Parkes Weber reported the combination of "hemangiomas" and overgrowth of a limb. For many years, the names of all three physicians were linked as a confusing (and incorrect) term "Klippel-Weber-Trenaunay syndrome," which still is (unfortunately) used to this day.

Since the latter 20th century, it is well-recognized that Parkes Weber and Klippel-Trenaunay syndromes are entirely different. Parkes Weber syndrome consists of fast-flow, multiple microscopic arteriovenous connections with variable capillary staining of an enlarged limb (usually the lower extremity). By genetic testing, many of these patients have a dominant, germline mutation in the gene RASA1.

In contrast, KTS is a slow-flow combined vascular disorder involving abnormal capillaries (C), lymphatics (L) and veins (V). Therefore, many investigators use the abbreviation CLVM, rather than KTS, and restrict the designation for patients who have all three vascular anomalies. Other authors apply the KTS term more broadly and include patients with only capillary stain (CM) or only capillary and venous anomalies (CVM) in the limb in the absence of lymphatic abnormalities.

Once the genetic cause for KTS is discovered, it will be possible to more precisely designate patients with these various combinations of vascular anomalies.

What are the symptoms for ktw syndrome?

Although the triad of "port-wine stain, varicosities, and asymmetric limb hypertrophy," is the consistent clinical centerpiece of Klippel-Trènaunay-Weber, there are often other less frequent abnormalities found in those affected by the syndrome. These may include other limb or digit abnormalities such as:

  • Atrophy (a limb that is underdeveloped),
  • fingers and toes that are disproportionately large or small,
  • digits that are webbed (syndactyly),
  • too many digits (polydactyly), or
  • too few digits (oligodactyly).

In addition to limb abnormalities, there are some other common features, including:

  • asymmetrical facial hypertrophy (one side of the face may be smaller than the other),
  • macrocephaly (a large head), or
  • microcephaly (a small head).

Eye problems may include glaucoma and cataracts. Any of the vascular anomalies can affect the internal organs including the intestinal and urinary tract systems. These may be at risk for spontaneous bleeding, and it is important to evaluate any individual with evidence of superficial abdominal lesions. Additionally, there is an increased risk of abnormal blood clots forming, which can move to the lungs, causing a pulmonary embolism.

What are the causes for ktw syndrome?

Most cases of Klippel-Trènaunay-Weber are sporadic. They usually occur without warning, with no prior case in the family. However, there have been some cases that run in families.

What are the treatments for ktw syndrome?

Although there's no cure for KTS, your doctor can help you manage symptoms and prevent complications.

Because KTS may affect many systems in the body, your health care team may include specialists in vascular medicine and surgery, skin diseases (dermatology), interventional radiology, orthopedic surgery, physical therapy and rehabilitation, and other areas as needed.

You and your doctor can work together to determine which of the following treatments are most appropriate for you. Treatments may include:

  • Compression therapy. Bandages or elastic garments are wrapped around affected limbs to help prevent swelling, problems with varicose veins and skin ulcers. These bandages or elastic garments often need to be custom-fit. Intermittent pneumatic compression devices — leg or arm sleeves that automatically inflate and deflate at set intervals — may be used.
  • Skin care. Skin hygiene of the affected limb can reduce infection risk and be part of treatment for superficial bleeding.
  • Physical therapy. Massage, compression and limb movement as appropriate may help relieve lymphedema in arms or legs and swelling of the blood vessels.
  • Orthopedic devices. These may include orthopedic shoes or shoe inserts to compensate for differences in leg length.
  • Epiphysiodesis (ep-ih-fiz-e-OD-uh-sis). This is an orthopedic surgical procedure that effectively can stop length overgrowth of the lower limb.
  • Embolization. This procedure, performed through small catheters placed into the veins or arteries, blocks blood flow to certain blood vessels.
  • Laser therapy. This procedure may be used to remove or lighten port-wine stains and to treat leaking and bleeding blebs on the skin.
  • Laser or radiofrequency ablation of veins. This minimally invasive procedure is used to close off malformed veins.
  • MR-guided ablation. Blood vessels are treated with a laser or cautery under MRI guidance.
  • Sclerotherapy. A solution is injected into a vein, which creates scar tissue that helps close the vein.
  • Surgery. In some cases, surgical removal or reconstruction of affected veins, removal of excess tissue, and correction of the overgrowth of bone may be beneficial.
  • Medication. Some people have benefited from oral medications that may help to treat complex vascular and lymphatic malformations that cause symptoms. But these drugs may have significant side effects that require monitoring. Topical sirolimus may help relieve symptoms of superficial vascular malformations. Studies are ongoing to determine the effectiveness and safety of these medications in people with KTS.

In addition, treatment may be needed for complications such as bleeding, infection, blood clots or skin ulcers. Special care may be needed during pregnancy to prevent complications.

What are the risk factors for ktw syndrome?

Family history doesn't seem to be a risk factor, so it's unlikely that parents of one child with KTS will have another child with the disorder, even if one of the parents has KTS.

Is there a cure/medications for ktw syndrome?

Most persons with Klippel-Trènaunay-Weber have an enlarged leg and they do relatively well without any significant treatment. It can be helpful to wear compression stockings to prevent venous pooling in the affected extremity (varicose vein management). However, some Klippel-Trènaunay-Weber patients do have considerable pain. Skin ulcers, infections and other skin problems can occur, but usually the treatment is conservative. Surgery is almost never needed.

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