Klippel-trenaunay Syndrome

What is klippel-trenaunay syndrome?

Ordinarily klippel-trenaunay syndrome is termed as ‘birth mark’. Multiple abnormalities which include blood vessels, bone and soft tissues causes this rare congenital syndrome. The development of the marks occurs due to inflammation of the vein near the surface of the skin. Klippel-Trenaunay syndrome (KTS) is also related to enlargement of bones and soft tissues commencement in infancy.

 

Symptoms

Some specific symptoms are only developed in case of KTS. These specific symptoms are due to the angio-osteo-hypertrophic malformation.

Port-wine spot

Blood vessels mainly veins are swelled near the surface of the skin and cause a specific spot occurrence which is known as port-wine spot. The specific characteristics of this spot are not elevated, light pink to dark red or maroon in colour. Usually this spot extends in the one side of the body, may be at the one limb or one side of the chest to the abdomen. The colour of the port-wine spot changed to lighter or darker with increasing age. There is a chance of development of the red blisters on the port-wine spot which become burst and ooze coming out.

 

Image 2: KTS

Varicose veins

Blood veins get twisted and inflamed, which may cause pain. The usually thigh and claves veins are affected and deep sited veins also get affected with KTS and cause deep vein thrombosis. Deep vein thrombosis often caused by clotting of the blood inside the vein. If this blood clot moved towards the lungs, then it leads to pulmonary embolism which is a fatal condition.

Bone and soft tissue deformities

Usually this anomalous development is restricted to one limb, most often one leg. However, enlargement can also affect the upper limb. The anomalous development can root of pain, a sensation of heaviness and restrict the movement. If the enlargement extends from one leg to another leg or adjoining part, it can also cause inconvenience for walking.

Diagnosis

Following diagnostic tests help to provide the KTS detection:

Intrauterine ultrasound

At the 15th week of conception, prenatal ultrasound may detect KTS by finding of limb hypertrophy and related subcutaneous cystic abrasions.

X-ray

X-ray of leg bone also provides the indication of deformity as it provides detection of bone elongation which affected leg length inconsistency.

MRI

MRI represents vascular deformities causes the less flow of blood in muscles and the pelvic region which also affects associated organs, bones and soft tissue hypertrophy.

Klippel-trenaunay Syndrome Treatment

The treatment objectives are reduction of symptoms and also inhibition of probability of complications.  The expert clinicians can provide the possible treatment option which is appropriate for the patient.

Usually the treatment approach for KTS is multidisciplinary, the individual care and specific customized treatments are required to overcome the problems associated with KTS.  It is very important to detail communication between patient and healthcare staffs, which will help to disclose the specific treatment needs of the patient.  The treatment approaches are divided into two parts:

• Pharmacotherapy
• Surgery

Pharmacotherapy

Iron supplements usually prescribed for the patient. Other than this medication, compressed stocking is also recommended by the doctor to control the pain the inflammation.

Surgery

Surgical therapy usually needs to restrict the complications. Mostly surgeries which are conducted for KTS are minimal invasive and some are not even needed to hospitalize the patient; in outpatient setting it can be possible by a vascular surgeon. The possible surgeries are:

Ligation and Stripping

Ligation refers to the correction of vein attachment through a minor cutaneous incision to avert pooling of blood. Ligation may be conducted in combination with vein banding, or amputation of the affected vein. In many cases, the affected vein is isolated by using a minor invasive surgical process termed as venous ablation.

Sclerotherapy

Sclerotherapy may be suggested.  In sclerotherapy, the parenteral administration of a drug directly into the varicose veins which helps to disintegrate the affected vein. For many instances this therapy provides beneficial and effective results. In this therapy, another option is foam sclerotherapy, which is performed under the guidance of ultrasound images and administration of the parenteral preparation as a form of foaming agent blended with sclerosing agents. The advantage of the foam formulation is that it can well attach to the wall of the affected vein. Application of sclerotherapy able to abolish the pain and uneasiness of varicose veins and helps prevention of complications which include ulceration and venous bleeding.

Laser Therapy

Laser therapy is offered to lessen or eliminate the port wine spots. Another option is laser and pulse-light therapy, in which application of heat to the blood vessel for shrinking the port wine spots. Laser therapy is the most successful in the case of the smaller varicose veins. Combinations of the laser therapy with sclerotherapy, surgery of larger veins or endovenous procedures provide a good and effective treatment of KTS. For larger varicose veins, laser may be applied for shrinkage. Several sittings are necessary for laser treatments depending upon the patient condition and severity of the syndromes. Usual gapping between two sittings are six-weeks.

Endovenous Thermal Ablation

A novel alternative treatment option for ligation and stripping is endovenous thermal ablation. This therapy applied locally a laser or high-frequency radio waves at the varicose vein. The mechanisms of laser or high frequency radio wave are different, but increase heat reaches the targeted vessels. This treatment cannot remove the affected vein, but closes off the problem associated with them.  The chances of invasive complications like bleeding or bruising are minimal. The advantage of this technique over ligation and stripping are less painful and a quick return to normal performance, without hampering cosmetic results.

Klippel-trenaunay Syndrome Pictures

References

1. Klippel-Trenaunay syndrome – Genetics Home Reference at http://ghr.nlm.nih.gov/condition/klippel-trenaunay-syndrome
2. http://reference.medscape.com/article/1084257-overview
3. Radiographic features at http://radiopaedia.org/articles/klippel-tr-naunay-weber-syndrome
4. Search Results Klippel-Trenaunay-Weber Syndrome: Facts About Prognosis at http://www.medicinenet.com/klippel-trenaunay-weber_syndrome/article.htm
5. When is surgery or minimally invasive therapies necessary for KTS? at http://my.clevelandclinic.org/services/heart/disorders/vs_klippel-trenaunay_syndrome