What Is Klippel Trenaunay Syndrome?
Klippel-Trenaunay syndrome (KTS) is an uncommon condition of the veins. KTS impacts a baby's prenatal blood and lymph vessel development. A more traditional term for the illness is Klippel Trenaunay Weber syndrome. KTS is defined by three characteristics: aberrant veins connected to varying degrees of soft tissue and bone overgrowth, lymphatic anomalies, and cutaneous capillary malformation (also known as "port-wine stain").
KTS is less common in the upper extremities and more common in the lower limbs. More profound abnormalities can manifest as swelling areas that can expand in the face, arms, legs, or other locations, but they are not usually noticeable until childhood. These swelling regions can enlarge and press against internal organs and facial features.
KTS may also impact the person's soft tissue and bones. A person may develop a more giant arm or leg than the other. Additionally, fingers and toes may be swollen or formed differently in people with Klippel-Trenaunay syndrome. These deformities increase the risk of infection and blood clot formation by reducing blood flow. Pulmonary embolism is the term for the potentially fatal disorder where blood clots move to the lungs.
What Are the Causes of Klippel Trenaunay Syndrome?
A DNA (deoxyribonucleic acid) mutation before the baby's birth may cause KTS. Though the syndrome can run in families, KTS primarily affects individuals without a known family history of the condition. A mutation can occasionally result in multiple sets of cells that share the same genes. This particular circumstance is known as a mosaic mutation. According to some medical professionals, the cause is a mutation in the cells that make up the lymphatic system, veins, and other tissues that happens before birth and is not inherited. There is no known pregnancy-related food, drug, or activity that can cause KTS.
What Are the Symptoms of Klippel Trenaunay Syndrome?
Before birth, during the baby's development, blood vessels are impacted by Klippel-Trenaunay syndrome. Klippel-Trenaunay syndrome is characterized by three factors:
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Limb Enlargement: One arm or leg may be larger than the other in a newborn with KTS. An arm or leg may get thicker due to a vein or lymph vessel enlargement, and it may also get longer due to the proliferation of soft tissue and bones. The growth of the soft tissues and bones may be progressive in certain situations, continuing as the child develops, but it usually ends as the child enters puberty. Significant issues might arise from limb growth. When a child grows, having one leg significantly more important than the other can lead to scoliosis (sideways curvature of the spine) because the spine can twist, and the pelvis can tilt out of position. Scoliosis can eventually result in persistent pain, trouble walking, and decreased mobility.
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KTS Discolorations on Skin: Birthmarks on the skin that are pink, dark crimson, or purple are called port wine stains. Capillary abnormalities cause them just beneath the skin's surface. Although port-wine and other skin stains indicate Klippel-Trenaunay syndrome, they can also appear in non-Kluspel-Trenaunay syndrome patients. When lymph vessels are affected in KTS patients, skin stains may be geographic, which means they have distinct borders and are dark red or purple. Segmental stains have a lighter tint and a more blotch-like appearance. Segmental stains show that the vascular malformation does not include lymph vessels.
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Malformations of the KTS Vein and Lymph Vessels: Ultrasonography may reveal venous abnormalities linked to Klippel-Trenaunay syndrome before delivery. The newborn may exhibit other ones. Other VMs might not be apparent at birth but appear more clearly as a child ages. Deep veins in the leg can be affected by venous abnormalities. Leg vein walls might develop into fibrous and stiff tissues. Aneurysms are slender, bulging patches of a blood artery that can develop. These issues might not be apparent from the outside and could only be found via ultrasound or magnetic resonance imaging.
How to Diagnose Klippel Trenaunay Syndrome?
Prenatal ultrasounds can occasionally reveal KTS symptoms, and the capillary malformation (port-wine stain) is nearly always visible after delivery. The physicians will begin with a comprehensive medical history and physical examination if the child is older and suspects they might have KTS. Often, the information from that initial exam is sufficient to diagnose KTS. In cases of uncertainty, a medical professional might suggest one or more of the mentioned imaging tests to help establish an accurate diagnosis and the best course of action for treatment:
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Ultrasound and magnetic resonance imaging (MRI).
How to Treat Klippel Trenaunay Syndrome?
When treating children with KTS, medical professionals prioritize avoiding infections, assisting the child in gaining and maintaining mobility, and managing discomfort and other symptoms. There is no particular medication that cures KTS.
Supporting Care:
The child's physician may prescribe various painkillers and antibiotics to aid with symptom management. Additional choices consist of
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Compression Garments: Wearing snug clothes on the injured limb can help lessen discomfort and swelling. They can also aid in preventing scratches and bumps on the child's limb.
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Heel Inserts: If a child's legs are somewhat different in length, these inserts help the child walk normally.
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Anticoagulant Therapy: Children with KTS may develop blood clots that move to their hearts or lungs from faulty blood vessels. Medication that thins the blood can help stop these clots from developing.
Minimally Invasive Treatments:
A board-certified specialist, an interventional radiologist treats patients across the body with focused, minimally invasive procedures that do not involve open surgery. These for KTS consist of
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Laser treatment and sclerotherapy (injecting a chemical solution directly into the varicose or spider vein).
Surgery:
KTS problems can be treated surgically with a variety of methods.
Among them are:
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Debulking Surgery: Some children require debulking surgery to remove overgrowth tissue and aberrant vessels. By reducing its size, this operation can help the child's damaged limb function better. Debulking, despite being an extensive and invasive procedure, can be highly beneficial to youngsters whose mobility is restricted because of severely swollen veins or anomalies in their limbs.
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Orthopedic Surgery: KTS may result in an overly big foot or leg for the child. Orthopedic operations encompass reshaping the foot to improve fit into shoes and epiphysiodesis (surgical ablation of a physis to stop its future growth), which inhibits leg growth once a kid reaches early adolescence.
Medicines:
Tumors can be shrunk, and vascular abnormalities can be effectively slowed in growth using immunosuppressive drugs. Sirolimus, sometimes called Rapamycin, inhibits the development of lymphatic vessels and suppresses the immune system.
Conclusion:
While there is currently no cure for Klippel-Trenaunay syndrome, symptoms can be controlled. A person with KTS may endure less discomfort and prevent complications with the support of an ongoing connection with a skilled medical team.
