Klippel-Trenaunay syndrome: Description, Causes and Risk Factors:
Alternative Name: Angio-osteohypertrophy syndrome, nevus vasculosus osteohypertrophicus, congenital dysplastic angiectasia, hemangiectatic hypertrophy, angioosteohypertrophy syndrome.
Klippel-Trenaunay syndrome (KTS) is a rare congenital disorder of the vascular system and is characterized by the following triad of clinical signs hemangiomas due to cutaneous capillary dysplasias; soft tissue and/or bone hypertrophy; and venous and lymphatic anomalies. At least two signs are present to establish the diagnosis. It is common in children and young adults. Its prevalence is one in every 20,000 to 40,000 children. Children of all ethnic groups can be born with Klippel-Trenaunay syndrome, and it affects males and females in equal numbers.
There are various theories about possible causes, including problems with how the blood vessel system develops during pregnancy, but more research is needed to confirm the cause. It is clear that it is not passed on from parent to child in any direct way.
The exact cause of Klippel-Trenaunay syndrome is unknown. Researchers suspect that the condition may result from changes in one or more genes that regulate the growth of blood vessels during embryonic development. However, no associated genes have been identified. It is also unclear how blood vessel malformations are related to the overgrowth of bones and soft tissues.
: Researchers found reciprocal translocations t(5;11) and t(8;14) and ring chromosome of 18 are reported in some cases. No genetic defect has been identified yet. By studying the break points of translocation between chromosomes 8 and 14, identified VG5Q gene which was considered to be a susceptibility gene for KTS syndrome. But the change E133K in VG5Q observed in 5 of 130 cases of KTS syndrome was found to be a polymorphism by other studies.
Symptoms may include:
A large port wine stain birthmark.
- Varicose veins.
- Excessive growth of soft tissue and/or bones.
- Fused toes or fingers (called syndactyly).
- Extra toes or fingers.
Differential Diagnosis: Two disorders have symptoms similar to Klippel-Trenaunay syndrome. One is Parkes-Weber syndrome, another similar disorder is Sturge-Weber syndrome. Both of these disorders also have port wine stain and blood vessel abnormalities as symptoms. However, unlike Klippel-Trenaunay syndrome, Parkes-Weber syndrome and Sturge-Weber syndrome include tangles of blood vessels called arteriovenous malformations (AVMs), and are more likely to be more severe with more difficult symptoms.
Klippel-Trenaunay syndrome maybe suspected in children who havea port wine stain covering an armor leg, but the diagnosis may notbe confirmed until the child iswalking and the varicose veins andlimb hypertrophy are more obvious.Generally, a child has to have allthree symptoms to be diagnosedwith Klippel-Trenaunay syndrome.
Investigation of the vascular or lymphatic malformations - various methods may be used; for example:
- Angiography or MRI/CT angiography.
- MRI or CT.
- CT of the abdomen and pelvis may help to identify visceral haemangiomas.
- Whole-body blood pool scintigraphy.
- Lymphoscintigraphy may be used to assess the lymphatic system and the cause of limb-length discrepancy.
- Imaging of the bone and soft tissues of the affected limb, using plain X-rays, MRI or CT scan.
- If there is gastrointestinal bleeding, it may be difficult to locate the source by endoscopy, since the venous malformations can be widely spread. Angiography can be helpful for both diagnosis and treatment of these lesions, and has been used to locate and treat severe bleeding in one reported case.
There is no curative therapy. Management requires a multidisciplinary and individualized approach, aiming to ameliorate the patient's symptoms and correct the consequences of limb-length discrepancy.
Treatment for the majority of patients with Klippel-Trenaunay syndrome is conservative, including application of graded compressive stockings or pneumatic compression devices to the enlarged extremity. Percutaneous sclerosis of localized venous malformations or superficial venous varicosities may be indicated for some patients. Surgical treatment includes epiphysiodesis to control leg length discrepancy, excision of soft tissue hypertrophy, stripping of superficial varicose veins or, less commonly, reconstructive surgery at sites of deep venous obstruction.
Ligation and Stripping: Ligation means the surgical tying of veins through a small incision in the skin to prevent pooling of blood. Ligation may be used in conjunction with vein stripping, or removal of the vein. In many instances, the vein is removed using a minimally invasive surgical procedure called venous ablation.
Sclerotherapy: Sclerotherapy may be recommended. Sclerotherapy involves the injection of a solution directly into the varicose veins that cause them to collapse and disappear. Several sclerotherapy treatments usually are required to achieve the desired results. Foam sclerotherapy is a variation of the procedure performed under ultrasound guidance that involves the injection of a foaming agent mixed with a sclerosing agent. The foaming agent moves blood out of the vein so the sclerosing agent will have better contact with the vein wall. Sclerotherapy can eliminate the pain and discomfort of varicose veins and helps prevent complications such as venous hemorrhage and ulceration.
Laser Therapy: Laser therapy is available to lighten or remove the port wine stain. Laser and pulse-light therapy are also used to heat the blood vessel to shrink it. Laser therapy is most effective for the treatment of small varicose veins. Laser therapy may be used as an additional treatment after sclerotherapy, endovenous procedures, or surgery of larger veins. Lasers are also being used for endovenous ablation of larger varicose veins. Laser treatments may require several sessions, spaced at six-week intervals, to properly treat the vein.
Endovenous Thermal Ablation: Endovenous thermal ablation is a newer version of ligation and stripping . During this procedure, a laser or high-frequency radio waves are used to create intense local heat in the varicose vein. The technology is different with each type of energy source, but both forms of local heat close up the targeted vessel. This treatment closes off the problem veins but leaves them in place so there is minimal bleeding and bruising. Compared with ligation and stripping, endovenous thermal ablation results in less pain and a faster return to normal activities, with similar cosmetic results.
NOTE: The above information is educational purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.
DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.