040 68334455
WhatsApp
Patient Portal
Home Care
What is Klippel-Trenaunay Syndrome?
Written by Medicover Team and Medically Reviewed by Dr Burhan Salim Siamwala , Orthopedics
Klippel-Trenaunay Syndrome is a rare condition present from birth that affects the development of blood vessels, soft tissues, and bones. It mainly impacts the arms, legs, and skin, leading to abnormal growth, enlarged veins, and red birthmarks called port-wine stains.
What are the Symptoms of Klippel-Trenaunay Syndrome?
Klippel-Trenaunay Syndrome (KTS) causes changes in blood vessels, bones, and soft tissues. It usually affects one leg but can involve other body parts too. The signs often appear at birth or early childhood.
Common Symptoms
- Skin thickening or changes in colour
- Pain in the affected limb
- Bleeding from veins or skin
- Blood clots in deep veins
- Open sores that don't heal
- Trouble moving the limb due to size or discomfort
What are the Common Causes and Risk Factors of Klippel-Trenaunay Syndrome?
Klippel-Trenaunay Syndrome (KTS) is a birth condition that affects how blood vessels, bones, and soft tissues form, mostly in the arms or legs. It isnt caused by anything the parents did, and usually happens randomly.
Causes
- The main cause of KTS is believed to be a change in the PIK3CA gene. This gene helps control how cells grow and divide.
- A mistake in this gene can lead to abnormal development of blood vessels and tissues during early pregnancy.
- This change usually happens by chance and is not inherited.
Risk Factors
- Present at birth: It develops before a baby is born.
- No family history: KTS usually does not run in families.
- Equal gender impact: It can affect anyone, though some reports suggest a slight male dominance.
Get a second opinion from trusted experts and makeconfident, informed decisions.
Get Second OpinionHow is Klippel-Trenaunay Syndrome Diagnosed?
Klippel-Trenaunay Syndrome (KTS) is often noticed at birth or early in life due to visible signs like a red birthmark, swollen limbs, or enlarged veins. Diagnosis involves a mix of physical examination and imaging tests to understand how deeply the condition affects the body.
Step-by-Step Diagnostic Process
- Physical Examination: Doctors start by looking at the skin for port-wine stains, checking limb size, and feeling for swollen veins.
- Ultrasound with Doppler: This test helps evaluate blood flow in the veins and checks for any blockages or abnormal vessels.
- MRI Scan: An MRI gives a clear picture of the soft tissues, muscles, and veins, helping doctors see how far the condition has spread.
- X-rays: These are used to measure bone growth and spot any differences in limb length.
- CT Scan (in some cases): When deeper evaluation is needed, especially for bones or complex blood vessels, a CT scan may be used.
- Blood Tests: If there are signs of clotting problems or ongoing inflammation, doctors may recommend blood work.
What are the Treatment Options for Klippel-Trenaunay Syndrome?
Klippel-Trenaunay Syndrome (KTS) is a lifelong condition, but with the right care, its symptoms can be managed effectively. Treatment focuses on easing discomfort, improving mobility, and preventing complications. Since each case is different, the treatment plan is to match the individual's needs.
Non-Surgical Treatments
- Compression Garments: Wearing specially designed stockings or sleeves helps reduce swelling, improve blood flow, and lower the risk of blood clots.
- Medications: Pain relievers may be used to ease discomfort. If there's a risk of clots, blood thinners might be prescribed. Antibiotics are sometimes needed to treat infections linked to open wounds or ulcers.
- Physical Therapy: Regular exercises can strengthen muscles, improve movement, and reduce stiffness, especially if one limb is larger or heavier than the other.
Surgical and Other Procedures
- Laser Therapy: Used to lighten or reduce port-wine stains on the skin. It often takes more than one session for visible results.
- Sclerotherapy: A chemical is injected into abnormal veins to shrink or close them. This helps reduce pain and swelling.
- Vein Surgery: In some cases, enlarged or painful veins may need to be tied off or removed to improve comfort.
- Limb Surgery: If one limb grows significantly longer or bulkier, surgery may be done to correct the difference or reduce excess tissue.
Long-Term Care
- Regular follow-ups help track any changes and prevent complications.
- Skin care and wound care are important, especially if ulcers develop.
- A team based approach, involving doctors from different specialties, offers better overall care.
When to See a Doctor?
Klippel-Trenaunay Syndrome (KTS) is often identified early in life. Recognizing the right time to consult a doctor can make a big difference in managing symptoms and avoiding serious issues.
Key Signs That Need Medical Attention
- Red or Purple Skin Marks: A port-wine stain that spreads or darkens over time
- Swelling in a Limb: One arm or leg appears larger, heavier, or warmer than the other.
- Visible Veins: Enlarged veins on the surface of the skin, especially if painful or bulging
- Open Sores or Skin Changes: Ulcers that don't heal or recurring skin infections
- Pain or Discomfort: Affected areas feel achy, tender, or tired during daily activity
When to Schedule a Visit?
- At Birth or in Early Childhood: If symptoms like limb swelling or skin changes appear, a doctor should assess them early.
- If Symptoms Get Worse: Any increase in swelling, pain, or discoloration over time requires medical review.
- Sudden Changes: Seek immediate care if you notice signs of a blood clot, like redness, heat, or tightness in the limb.
People Who Need Close Monitoring
- Children with noticeable birthmarks and limb differences
- Individuals with frequent leg infections or skin ulcers
- Anyone with difficulty walking due to uneven limb size
- Those with a personal or family history of vein or growth disorders
Your health is everything - prioritize your well-being today.
Consult Klippeltrenaunay Syndrome Doctors Today
What Precautions Can Help Prevent Klippel-Trenaunay Syndrome?
Klippel-Trenaunay Syndrome (KTS) is not caused by lifestyle or environmental factors. It is a rare condition present at birth, linked to changes in the way blood vessels and tissues develop during pregnancy. Because of this, there is no known way to prevent KTS from occurring.
Precautions to Reduce Complications
While the syndrome itself cannot be prevented, certain steps can help manage symptoms and avoid serious health issues:
- Use Compression Garments: Wearing compression stockings or sleeves regularly helps control swelling and improve blood flow in the affected limb.
- Protect the Skin: Keep the skin clean, dry, and moisturized. Treat minor cuts or rashes promptly to prevent infection, especially if ulcers are present.
- Stay Active: Low-impact activities like walking or swimming support circulation and reduce stiffness in larger limbs.
- Avoid Long Periods of Inactivity: Sitting or standing for too long can worsen swelling. Take breaks to move around during the day.
- Follow Medical Advice: Attend regular check-ups to monitor limb growth, vein health, and skin condition. Imaging and blood tests may be needed to track changes.
What Can Happen Without Proper Care?
Ignoring KTS symptoms can lead to
- Blood clots in deep veins
- Repeated skin infections or open wounds
- Uncontrolled limb growth causing pain or mobility issues
- Emotional distress due to long-term visible symptoms
Our Experience in Treating Klippel-Trenaunay Syndrome
At Medicover Hospitals, we understand that living with Klippel-Trenaunay Syndrome can be physically and emotionally challenging, especially for families seeking clear answers and compassionate care. With years of experience managing rare vascular conditions, our team takes a thoughtful, patient-centered approach.
From the first consultation to long-term follow-up, we combine advanced diagnostics with treatment plans designed to improve comfort, mobility, and quality of life. Every child and adult we treat receives care not just with skill, but with empathy and respect. Our goal is to walk with you step by step toward better health and daily ease.
