Klippel-Trenaunay Syndrome

Klippel-Trenaunay Syndrome

Klippel-Trenaunay syndrome (KTS) is a rare congenital (present at birth) disorder. It changes the way your soft tissues, bones and blood vessels develop and causes a red “port-wine stain” birthmark on one limb. Many people with KTS also have abnormalities in their lymphatic system. This system helps maintain fluid balance in your body.

Although Klippel-Trenaunay syndrome doesn’t have a cure, many treatments can help you manage symptoms. Early diagnosis and treatment (often soon after birth) can reduce the risk of health complications related to KTS.

Some providers use the abbreviation CLVM to refer to Klippel-Trenaunay syndrome. CLVM refers to the changes in your:

. capillaries (C), the small blood vessels connecting your veins and arteries

·  Lymphatic system (L), the part of your immune system that transports a body fluid called lymph

·  Veins (V), the blood vessels that carry blood to your heart

The M is for malformation, meaning a part of your body that didn’t develop in a typical way.

KTS gets its name from the two French doctors who discovered it, Maurice Klippel and Paul Trenaunay. They identified the syndrome in 1900. Experts estimate that KTS affects around 1 in 100,000 people around the world. Anyone can get it; race or sex doesn’t matter.

What causes Klippel-Trenaunay syndrome?

KTS often happens because of a variation in the PIK3CA gene.The gene variation occurs sporadically (for no known reason). You don’t in heritit from your parents.

Some people have KTS without having the PIK3CA variation. Because of this,researchers think other gene variations could also cause KTS.

What are the symptoms of Klippel-Trenaunay syndrome?

Klippel-Trenaunay syndrome symptoms affect your veins, capillaries, soft tissues, bones and lymphvessels in these ways:

• Capillary malformation (CM). KTS causes a port-wine stain  birthmark, which happens when capillaries swell directly beneath your  skin. These birthmarks may be the first sign of KTS and vary from light pink to deep wine-red. As you age, these can develop blisters or   lighten or darken.
• Vein malformation (VM). Almost everyone with KTS  has venous malformation. These may occur in superficial veins,  leading to varicose veins on your calves and thighs. They can also happen in deeper veins, which may increase your risk of Deep vein thrombosis (DVT)

• Soft tissue and bone overgrowth. Your limbs may grow larger     than what’s typical, starting in infancy. Overgrowth often affects only     one limb, usually your leg. One leg might grow longer than the other. This     can limit your range of motion.
• Lymphatic malformation (LM). Some people with KTS also have     extra or unusual lymph vessels, which carry lymph. In KTS, the extra lymphatic     vessels often don’t work as they should. They may leak lymphatic fluid,     cause foot swelling or cause issues in your pelvis, bladder or     lower intestines.

What are the complications of Klippel-Trenaunay syndrome?

KTS may cause complications like:

• Blood clots
• Cellulitis, bacterial infections     below your skin
• Fluid buildup and swelling (Lymphedema)

How is Klippel-Trenaunay syndrome diagnosed?

Health care providers initially diagnose KTS based on the physical signs. You may get a KTS diagnosis if you have issues in two of these three areas: capillaries, veins or limbs. Because many KTS symptoms are present at birth, your baby may receive a diagnosis of KTS before leaving the hospital.

What tests will be done to diagnose Klippel-Trenaunay syndrome?

Tests for Klippel-Trenaunay syndrome may include:

• CT Scans or MRIs to look at soft tissues  and bones
• Magnetic resonance(MR) Angiogram , a specialized MRI   to look at blood vessels and veins
• Doppler Ultrasound to look at how blood flows  through veins and arteries

Management and Treatment

How is Klippel-Trenaunay syndrome treated?

Klippel-Trenaunay syndrome treatment varies based on symptoms. Treatment may include

• Blood-thinning medicines. Anticogulants like heparin reduce the risk of blood clots in your legs and pulmonary  embolism.
• Sirolimus. Providers  typically use this drug to prevent transplanted organ rejection. But it  can stop vascular malformation from getting worse.
• Compression stocking. These  special socks help blood return to your heart. They can decrease leg  swelling and pain and reduce clot risks.
• Endovenous thermal ablation. This  treatment uses focused beams of energy inside blood vessels to close off  problem veins. The veins stay in place so you can heal faster, with less  pain

• Laser therapy. Focused, strong beams of  energy can destroy or remove unwanted tissue. You may have laser therapy  to lighten the appearance of port-wine stain birthmarks.
• Sclerotherapy. Your provider injects a special solution into specific veins, capillaries or lymphatic  vessels to close them off. Sclerotherapy is often effective for  varicose veins.
• Shoe lifts. You may wear a lift in one shoe to correct uneven leg lengths. Lifts can help prevent irregular spine curving (scoliosis).
• Surgery. You may have surgery to     correct vein problems or uneven leg length. Or your provider may remove  some extra fat or tissue to reduce the size of overgrown limbs. Rarely,  healthcare providers may amputate an irregularly large toe so you can     wear shoes and walk more easily.

What are Advance non-surgical solution for Klippel-Trenaunay syndrome ?

Ethanol absolute embolization

Ethanol absolute embolization is an effective, staged treatment for complex venous malformations and some arteriovenous malformations (AVMs) in

Klippel-Trenaunay Syndrome (KTS), involving direct injection of a sclerosant agent to cause vessel occlusion and reduce symptoms like pain and swelling. While it can achieve significant symptom improvement and long-lasting results, it require scareful technique to prevent complications such as tissue necrosis, and often involves multiple sessions for large or complex lesions. 

How it Works

1.Sclerotherapy:

Absolute ethanol is a sclerosant that, when injected directly into the abnormal vessels,causes the endothelial cells and blood cells within the vascular malformation to denature and die, leading to vessel occlusion. 

2.Direct Puncture:

A needle is carefully positioned into the malformation, and the ethanol is injected directly into the lesion. 

3.Staged Therapy:

Complex or large lesions require multiple embolization sessions over time to effectively treat the entire malformation, rather than a single large dose. 

4.Indications

• Ethanol embolization is primarily used for symptomatic vascular malformations that are not  candidates for surgery or where previous treatments have failed. 
• It is particularly useful for omplex forms of congenital venous malformations, which are a hallmark of  KTS. 
• It can be used for both venous malformations and some arteriovenous malformations. 

Benefits

• Efficacy:It has shownhigh rates of success in achieving immediate thrombosis of the vascularmalformation and long-lasting therapeutic results. Treatment can lead to the obliteration of symptoms such as pain, bleeding, swelling, and redness associated with these malformations. 
  • Symptom Relief:
  • Reduced Morbidity:
  When per formed correctly, it offers a safe treatment with reduced risk of complications compared to other methods. Risks and Complications
  • Tissue Necrosis:
  Careful technique is crucial to prevent ethanol from leaking out of the malformation and causing tissue necrosis. 
  • Inflammation:
• Steroids are often used during and after the procedure to help reduce inflammation. 
  • Other Complications:
  Minor complications like blistering, pigmentation, and nerve palsy have been reported but are often treatable. 
  • Systemic Effects:
  While rare and transient, systemic changes like decreases in blood pressure and oxygen saturation have been observed