Klippel-Trenaunay Syndrome (KTS)
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Klippel-Trenaunay Syndrome (KTS) is a rare congenital disorder characterized by abnormal development of certain blood vessels, soft tissues (including skin and muscles), bones, and occasionally the lymphatic system. It is usually identified at birth and presents with distinctive features such as a port-wine stain birthmark, which can range from pink to reddish-purple in color, abnormal formations in veins or the lymphatic system, and the overgrowth of tissues and bones. Although these symptoms primarily affect one leg, they can also manifest in an arm or other parts of the body. While there is no cure for KTS, treatments are available to help manage its symptoms. Health professionals typically detect and diagnose KTS shortly after birth, and prompt treatment can mitigate the risk of further health issues associated with the condition.
Symptoms
Klippel-Trenaunay Syndrome (KTS) is characterized by a distinctive set of symptoms and complications, primarily affecting the skin, veins, soft tissues, bones, and the lymphatic system.
The primary features include:
- Capillary malformation (CM): A hallmark of KTS is the appearance of port-wine stain birthmarks, resulting from swollen capillaries beneath the skin. These birthmarks can range in color from light pink to deep wine-red and may change shade over time. With age, the birthmarks can develop small blisters, which might burst or bleed. Typically, these birthmarks are among the first indications of KTS.
- Lymphatic malformation (LM): KTS may also involve abnormalities in the lymphatic system, with some individuals having extra or irregularly formed lymph vessels. These vessels may not function properly, leading to leakage of lymph fluid or swelling of the feet. Issues with lymph vessels can extend to the pelvis, bladder, or lower intestines.
- Vein malformation (VM): Almost every individual with KTS experiences venous malformations, affecting both superficial and deep veins. Superficial malformations can lead to varicose veins, primarily on the calves and thighs, which are twisted, swollen, and can cause discomfort or itchiness. Malformations in deeper veins may heighten the risk of deep vein thrombosis (DVT), potentially leading to swelling, pain in the lower limbs, and an increased risk of gastrointestinal (GI) tract bleeding due to venous malformations.
- Soft tissue and bone overgrowth: A characteristic overgrowth of limbs can begin in infancy, typically affecting only one limb—often the leg. This overgrowth can cause a discrepancy in limb length, leading to pain, a sensation of heaviness, and a reduced range of motion.
Complications associated with KTS include:
- Blood clots
- Cellulitis (bacterial infections below the skin)
- Lymphedema (fluid buildup and swelling)
- Internal bleeding (including in the colon, bladder, or female reproductive system)
- Pulmonary embolism (a critical condition when blood clots move to the lungs)
Additional Congenital Differences: Though less common, some individuals with KTS might have congenital differences in their hands or toes, such as extra fingers or toes (polydactyly) or fused fingers or toes (syndactyly).
Causes
While Klippel-Trenaunay syndrome (KTS) can be hereditary, not all cases are inherited. The condition is typically caused by genetic alterations or mutations, with the PIK3CA gene being most commonly implicated. This gene plays a crucial role in tissue formation and cell proliferation within the body. Mutations in the PIK3CA gene lead to tissue overgrowth. These genetic alterations occur randomly during early development, specifically before birth, during cell division.
Risk factors
It is unlikely that parents of one child with KTS would have another child with the medical conditions, even if one of the parents has KTS. Family history does not appear to be a risk factor.
Diagnosis
The following procedures will help the healthcare provider diagnose the KTS.
- Physical examination: The initial phase of diagnosing Klippel-Trenaunay Syndrome (KTS) involves a comprehensive physical examination, emphasizing the importance of consultation with a vascular malformations expert for precise examination and treatment guidance. During this examination, the specialist conducts a thorough evaluation of the patient’s condition, which includes a review of the patient’s family and medical history, an assessment for the presence of swelling, varicose veins, and port-wine stains, as well as a visual assessment of soft tissue and bone development to gather critical insights into the condition.
Several diagnostic tests are available to help your doctor evaluate the condition more accurately and identify the type and severity of the disorder, which assists in determining the appropriate treatment. These tests include:
- Duplex ultrasound scanning: This test employs high-frequency sound waves to generate detailed images of blood vessels and the flow of blood within them.
- Magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA): These procedures are instrumental in distinguishing between bone, fat, muscle, and blood vessels and in identifying vascular malformations.
- Scanogram: Also referred to as scanner photography, this radiographic technique produces images of bones and aids in measuring their lengths.
- Computed tomography (CT) scan or computed tomography angiography (CTA): A CT scan creates three-dimensional images of the body that are useful for showing blood clots in the veins.
- Contrast venography: This procedure involves the injection of a dye into the veins followed by X-ray imaging, which can reveal unusual veins, obstructions, or blood clots.
- Coagulation studies: These tests are conducted to assess the clotting ability of blood.
- Genetic studies: These tests identify the characteristic pattern of gene variations (gene signature) that may explain the occurrence of the condition.
Treatment
While there is presently no cure for Klippel-Trenaunay syndrome (KTS), your healthcare provider can assist you in managing symptoms and preventing potential challenges.
Which of the treatments that follow is best for you can be decided in collaboration with your healthcare provider. Possible treatments include:
- Physical therapy: Blood vessel swelling and lymphedema in the arms or legs can be reduced with the use of massage, compression, and limb mobility as necessary.
- Skin care: Maintaining good skin hygiene on the affected limb can lower the risk of infection and help with superficial bleeding therapy.
- Compression stockings: The affected limbs are wrapped in bandages or elastic clothing to assist reduce swelling, varicose vein issues, and skin ulcers. These stretchy clothing items, such as bandages, frequently require specific fit. Leg or arm sleeves that automatically inflate and deflate at predetermined intervals are examples of intermittent pneumatic compression devices. Blood returns to the heart with the help of these special socks. In addition to lowering clot risks, they help lessen leg discomfort and edema.
- Orthopedic devices: Orthopedic footwear and shoe inserts that adjust for variations in leg length are two examples.
- Embolization: This process stops blood flow to certain blood vessels by inserting tiny catheters into the veins or arteries.
- Laser therapy: Strong, focused beams of energy can eliminate or kill undesirable tissue. This process can be used to cure bleeding and seeping blebs on the skin as well as eliminate or lighten port-wine stains.
- Radiofrequency or laser vein ablation: This non-invasive technique is used to close off veins that are not properly developed.
- MR-guided ablation: Under MRI guidance, blood vessels are treated with a laser or cautery.
- Sclerotherapy: An injection of a solution causes scar tissue to form in the vein, assisting in its closure.
- Medication: Oral medicines have shown promise in treating complicated vascular and lymphatic abnormalities that result in symptoms for certain individuals. However, there’s a chance these medications have serious adverse effects that need to be watched for. The symptoms of superficial vascular malformations may be lessened by topical sirolimus. The efficacy and safety of these drugs in treating KTS patients are still being studied.
- Surgery: Surgery could be necessary to treat vein issues or abnormal leg length. Alternatively, your physician could trim some excess fat or tissue to make enlarged limbs appear smaller. In order to wear shoes and move about more readily, a healthcare provider may occasionally amputate an abnormally huge toe.
- Epiphysiodesis: This lower limb length expansion can be efficiently stopped by an orthopedic surgical surgery.
Complications include bleeding, infection, blood clots, or skin ulcers may also require treatment. To avoid challenges, more caution may be required throughout pregnancy.
