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.