Klippel-Trenaunay syndrome (KTS) is a congenital disorder that can negatively affect blood vessels, skin, muscles, and bones. This condition is relatively rare, affecting one in 100,000 people. Although there is not a cure, Klippel-Trenaunay syndrome is usually manageable with treatment.
If your child or a loved one has been diagnosed with this condition, educating yourself is a great first step on the treatment journey. By learning more about Klippel-Trenaunay syndrome, including effective treatments and care guidelines, you can take a proactive role in achieving the best possible outcome for your family.
Causes, Risk Factors, and Symptoms of Klippel-Trenaunay Syndrome
Like many conditions, doctors and researchers are still working to understand the causes of Klippel-Trenaunay syndrome. It is mainly caused by congenital mutation of the PIK3CA gene, which controls cell growth and proliferation. Mutations to this gene cause changes to proteins that can result in the overgrowth of bones, skin, muscles, and other soft tissue. Not everyone with KTS has a mutated PIK3CA gene, so researchers believe there may be other genetic mutations that can cause the condition.
KTS is part of a family of overgrowth syndromes related to PIK3CA gene mutation, known as the PIK3CA-related overgrowth spectrum (PROS). Another member of this family is Megalencephaly-capillary malformation syndrome, which causes brain enlargement and capillary abnormalities.
Despite being a genetic condition, researchers do not believe that family history and inheritability are related to Klippel-Trenaunay syndrome. Currently, there is minimal understanding of risk factors for this condition. It is largely believed to be caused by random somatic genetic mutations that occur in single cells before birth.
KTS is usually identified by a number of telltale signs and symptoms. Most notably the presence of a birthmark commonly called a port wine stain. This stain will often be present on one limb, be flat, and have a light pink to maroon color. In some cases, this area develops blisters that can sometimes break open and start bleeding.
Other symptoms and complications include:
Increased risk of infection
Malformation of veins and blood vessels, including varicose veins
Increased risk of deep vein thrombosis (DVT) as a result of vein malformation
Increased risk for internal bleeding
Skin ulcers and a skin infection known as cellulitis
Soft tissue and bone overgrowth, usually limited to a single location such as a leg
Dysfunction of the lymphatic system, including lymphedema and lymphatic cysts in the spleen
KTS can also cause related conditions including cataracts, hip dislocation, and glaucoma. In very rare cases, patients with KTS may also experience the fusion of the fingers and toes, or growth of extra digits.
Diagnosing and Treating Klippel-Trenaunay Syndrome, Including Child Care Needs
As a congenital condition, KTS is usually present at birth. Doctors will generally perform a physical examination to confirm the diagnosis of KTS after identifying any signs of the condition. Common steps include:
Reviewing medical history
Asking about symptoms and activity levels
Visual and hands-on examination of bone and soft tissue growth
Diagnostic testing, including scanogram, duplex scanning, MRI, and CT scan
Contrast venography X-ray to reveal abnormal veins
Upon diagnosis, doctors will usually recommend treatments to help manage symptoms. Although there is not a cure for KTS, there are many effective therapies that can help relieve pain and improve function, including:
Physical therapy and rehabilitation
Compression therapy to limit swelling and issues with varicose veins
Orthotics, such as shoe inserts, to help compensate for uneven leg length and other possible functional issues
Laser therapy to treat skin blemishes and marks or to ablate to close off abnormal or potentially harmful veins
Embolization or sclerotherapy to close off veins
Medications to treat certain vascular formations
In some cases, surgery may be necessary for KTS treatment. This can include vascular surgery to alter, remove, or reconstruct veins, as well as orthopedic procedures to address abnormal bone growth. Postsurgical recovery can involve extended hospital stays, a prolonged rehabilitation period at home, and increased risk for certain complications.
Children with KTS have specialized care needs, including nutrition, medication, managing compression therapy, and coordinating physical therapy sessions. In many situations, younger patients and their families can benefit from working with a pediatric home health aide.
Contact Care Options for Kids for Home Health Care in Florida
It can be hard to balance your time between work, home, and caring for a child. That’s why our team of professionals at Care Options for Kids is here to help. We have been enforcing precautionary measures and following the Centers For Disease Control (CDC) guidelines for COVID-19 to ensure the safety and health of our clients and employees.
Our home health care services offer support in the comfort of your home. We refer loving and competent nurses to provide customized care for families — from a few hours a day to around-the-clock supervision. Contact us directly to speak with a home health care professional or request a free in-home assessment. Together we can determine the best plan of action to keep your loved ones happy and healthy.
If you or a loved one are considering Pediatric Home Health Care Services in Florida, contact the caring staff at Care Options for Kids. Call today at (888) 592-5855.