Klippel-Trenaunay syndrome (KTS) is a rare congenital condition that often involves abnormal development of blood vessels, soft tissues (such as skin and muscles), bones, and the lymphatic system. The disease is characterized by three features: a red birthmark called a port-wine stain, abnormal overgrowth of soft tissues and bones, and vein malformations, like varicose veins.
KTS is also called Klippel–Trénaunay–Weber syndrome, angio-osteohypertrophy syndrome or congenital dysplastic angiopathy. According to data, at least 1 in 100,000 people worldwide is affected by the disorder. There is no cure for KTS, but proper treatment plans can help manage the symptoms and prevent further complications.
Most cases of KTS occur for no clear reasons. Studies show that genetics play a role in developing the disease. More specifically, genetic mutations in the PIK3CA gene can put individuals at higher risk. These genetic changes are responsible for the development of tissues in the body, resulting in overgrowth.
However, KTS is not usually inherited. The gene mutations occur randomly during cell division in early development before birth.
The signs and symptoms of KTS can range from
mild to extensive. General symptoms include；
- Many port-wine stains or other blood vessel problems, such as dark
spots on the skin
- Varicose veins, which are swollen and twisted veins usually on the
surface of the legs
- Overgrowth of bones and soft tissue, which may be accompanied with
pain in the limbs
Other manifestations of KTS may include:
- Blood clots
- Hip dislocation
- A skin infection
- Blood in the urine
- Bleeding from the affected limb
Patients with KTS may have excessive growth of bones and soft tissue. This occurs most commonly in the legs, but it also may affect the arms, face, head, or internal organs. A physical exam can help your doctor search for signs of these symptoms. During the exam, your doctor will also ask questions about your family and medical history and look for signs of swelling, varicose veins and port-wine stains.
Other tests that may assist in confirming
the disease include:
- Duplex ultrasonography
This test uses high-frequency sound waves
to create detailed images of blood vessels.
This test is also called scanner
photography. It is an X-ray technique that helps to see images of bones and
measure their lengths.
- MRI and magnetic resonance angiography (MRA)
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.
Treatment options that can be chosen to
help reduce symptoms and prevent complications include:
- Physical therapy
Massage, compression and limb movement as appropriate
may help relieve lymphedema in arms or legs and swelling of the blood vessels.
In some cases, surgical removal or
reconstruction of affected veins, removal of excess tissue, and correction of
the overgrowth of bone may be beneficial.
Early research indicates that a drug called sirolimus (Rapamune) may help treat symptomatic complex vascular malformations, but it may have significant side effects and more studies are needed.
- Compression therapy
Bandages or elastic garments are wrapped
around affected limbs to help prevent swelling, problems with varicose veins
and skin ulcers.
This surgical procedure can stop length
overgrowth of the lower limb effectively.
- Laser therapy
This procedure is to lighten port-wine
stains and to treat early blebs on the skin.
- Laser or radiofrequency ablation of veins
This procedure is minimally invasive and
can be used to close off abnormal veins.
In this procedure, a solution is injected into a vein, which creates scar tissue that helps close the vein.
Keywords: Klippel-Trenaunay syndrome (KTS); KTS; Klippel–Trénaunay–Weber syndrome; angio-osteohypertrophy syndrome; congenital dysplastic angiopathy.