Klippel Trenaunay Syndrome (KTS) is a rare congenital malformation; here’s how 21 year old Arianna is living with this condition, plus important medical facts about the symptoms and treatments of KTS. In this article, Arianna describes what it’s like to live with Klippel Trenaunay syndrome as a young woman.
“Klippel Trenaunay syndrome is very uncommon and not known by most, so I feel it is important to speak up for it as much as I can, to promote awareness and research,” says Arianna, who has lived with Klippel Trenaunay syndrome since birth. “I along with my KTS colleagues have significantly been impacted by this disease and it gets progressively worse as we age. I want to help ensure a better life for others who will be impacted by this rare and progressive disease in the future.”
Despite the multiple procedures and surgeries she’s had, Arianna is brave, optimistic, and positive about her life and determined to help others cope with the symptoms and treatments of illnesses such as Klippel Trenaunay syndrome. Here’s how she’s living well with KTS…
“It’s okay to have days where you are upset about living with Klippel Trenaunay syndrome – you don’t have to hold everything in,” says Arianna, who is a full-time college student at Merrimack College. “If you hold your emotions in, they will boil over.”
Whether you yourself have been diagnosed with KTS, or your child has – it’s important not to stuff down your emotions. Talk and write about your fears, disappointment, anger, shock, and frustration. Coping with any health condition is scary and difficult; living with the symptoms and finding treatments for a rare congenital disease such asKlippel Trenaunay syndrome is downright painful. You’ll find the medical system confusing and frustrating, the doctors baffling, the information confusing and misleading.
But take heart! You are not alone. Find supportive people to help you cope, whether it’s a chronic illness support group, a hospital social worker, or a counselor who specializes in physical health-related issues. Learn what you can and can’t expect from your friends and family. Learn how to stay positive when you’re sick.
What is Klippel-Trenaunay Syndrome?
This summary of the causes, symptoms, and treatments of Klippel-Trenaunay is from the National Institute of Neurological Disorders and Stroke:
Klippel-Trenaunay syndrome is a rare congenital malformation involving blood and lymph vessels and abnormal growth of soft and bone tissue. Typical symptoms include hemangiomas (abnormal benign growths on the skin consisting of masses of blood vessels) and varicose veins. Fused toes or fingers, or extra toes or fingers, may be present. In some cases, internal bleeding may occur as a result of blood vessel malformations involving organs such as the stomach, rectum, vagina, liver, spleen, bladder, kidneys, lungs, or heart. Individuals are also at risk for blood clots.
The cause of Klippel-Trenaunay syndrome is unknown. A similar port-wine stain disorder – in which individuals have vascular anomalies on the face as well as in the brain – is Sturge-Weber syndrome. These individuals may experience seizures and mental deficiency. In some cases, features of the Klippel-Trenaunay syndrome and Sturge-Weber syndrome coincide. Another overlapping condition is the Parkes-Weber syndrome, which is characterized by abnormal connectivity between the arterial and venous system (arteriovenous fistulas).
Below, I share more information about the difference between Klippel-Trenaunay syndrome and Parkes Weber syndrome.
There is no treatment or cure for Klippel Trenaunay syndrome
Laser surgery can diminish or erase some skin lesions. Surgery may correct discrepancies in limb size, but orthopedic devices may be more appropriate.
Klippel-Trenaunay syndrome is often a progressive disorder, and complications may be life-threatening. However, many individuals can live well while managing their symptoms.
How Arianna Lives With Klippel Trenaunay Syndrome
Arianna’s story below is in her own words…
My Klippel Trenaunay has flared often over the years. Growing up, I had a multitude of procedures and hospitalizations but was still able to live somewhat of a normal life. However, when I hit high school (literally the first week of my freshman year), I started getting severe cellulitis infections on a constant basis.
For the next four years, I was shuffled in and out of the hospital along with having several operations. I also have dealt with blood clots my entire life.
How to cope with Klippel Trenaunay syndrome
Surround yourself with people who are supportive and will listen to you. Keeping yourself surrounded by positive people is essential; as much as possible, try not to associate yourself with negative ones. Klippel-Trenaunay syndrome impacts patients in various ways, so it would be hard for me to give another Klippel-Trenaunay syndrome patient specific advice based upon the condition itself.
If your loved one has been diagnosed with Klippel Trenaunay syndrome, expect that they’ll need time to themselves some days to cope with everything they have going on. Don’t be offended if they request some time alone. If they decline an invitation to go out, don’t assume they are just bailing. Chronic illness is exhausting physically and mentally, and not everyone realizes the toll it takes on one’s mind.
Find the benefits of living with Klippel Trenaunay syndrome
Klippel Trenaunay syndrome has motivated me to do an array of things. About four years ago, I wrote an article for Children’s Hospital Boston’s Dream magazine called “A rare disfiguring disease won’t stop me.” And, I did a small documentary about me talking about the symptoms of Klippel-Trenaunay syndrome.
This summer, I will be speaking at the national Klippel-Trenaunay syndrome conference in front of several doctors and patients. I was discovered through an old blog of mine in which no longer exists, but I have recently started a new one that will chronicle journeying through life with chronic illness- and the anxiety (OCD)/depression that ensued following all the medical chaos.
Living with Klippel Trenaunay syndrome is a constant battle, but I have learned so much over the years and hope to help others like me someday.
Arianna’s bio, from her blog Kisses for KTS (Klippel Trenaunay Syndrome): I am a 23-year-old college student who was born with KTS. At 18, I was hit really hard with anxiety and depression. I am fortunate to have had support from amazing professionals and family during that time. I want those who are also struggling with chronic/mental illness to know there is indeed hope for them, which is why I am majoring in psychology at Merrimack College. :-) I hope to garner awareness as to what Klippel is and the emotional toll it can have on its patients/family members. I am treated by the outstanding Vascular Anomalies team at Children’s Hospital Boston.
Her past blog was called Toujours Belle (toujours belle means “still beautiful” in French). She chose the name because in spite of the abnormal difficulties we experience, we are still all beautiful beings both inside and out.
Additional Info on KTS – from RareDiseases.org
Klippel-Trenaunay syndrome occurs most frequently in the lower limbs and less commonly in the upper extremities and trunk. People who have Klippel-Trenaunay syndrome may have the following symptoms and features, which can range from mild to more extensive.
This pink to reddish-purple birthmark is caused by swelling of tiny blood vessels (capillaries) under the skin. The birthmark usually covers part of one leg, and sometimes one arm, and may get darker or lighter with age. Some areas may be prone to bleeding and infections.
These include swollen, twisted veins (varicose veins) usually on the surface of the legs, which can cause major pain and skin ulcers due to poor circulation.
Deeper abnormal veins in the arms, legs, abdomen and pelvis can increase the risk of blood clots (deep vein thrombosis) and cause a life-threatening condition called pulmonary embolism if they dislodge and travel to the lungs. Spongy tissue filled with small veins in or under the skin can cause bleeding, infection or inflammation.
This symptom can cause a great deal of pain for someone living with KTS.
Overgrowth of bones and soft tissue
Overgrowth of bones and tissue begins in infancy and is usually limited to one leg, but it can occur in an arm or in the person’s trunk (but this is rare). This overgrowth of bone and tissue creates a larger and longer extremity. The overgrowth can cause pain, a feeling of heaviness and problems with movement. This is one of the most difficult parts of living (well) with KTS.
Lymphatic system abnormalities
The lymphatic system is part of your immune system, which protects you against infection and disease. An abnormality can cause fluid buildup and swelling in the tissues of your arms or legs (lymphedema), the development of small masses (lymphatic cysts) in the spleen, or infection of the layer under the skin (cellulitis).
Causes of Klippel-Weber-Trenaunay syndrome
The precise cause of Klippel-Trenaunay syndrome is unknown, but may involve genetic changes that are not inherited (mutations). More research is needed to determine the causes.
According to the National Organization for Rare Diseases, the cause of KTS is “a mutation in primitive cells that form a limb that were destined to become blood and lymphatic vessels, fat, and bones. There is gathering evidence that this is a somatic mutation in the gene PIK3CA.” Those genetic experts add that because this genetic alteration does not occur in the germ cells, KTS cannot be passed on in a family.
Help Living Well With KTS
I usually share a book at the beginning or end of every one of my blog posts, so readers can get more information. But, I didn’t find anything related to Klippel Trenaunay syndrome on Amazon. There are lots of medical textbooks about “human malformation” and syndromes of the skin, head and neck, but nothing on coping with the symptoms and treatments of KTS. Maybe Arianna will be the first to write a book about Klippel Trenaunay syndrome….or maybe you will!
But, there are books on living with chronic disease that are encouraging and helpful.
In How to Live Well with Chronic Pain and Illness: A Mindful Guide, Toni Bernhard offers comfort, understanding, and advice for those who are suffering – and those who care for them. She isn’t living with KTS, but she has personal experience with chronic pain and illness.
Chronic illness creates many challenges, from career crises and relationship issues to struggles with self-blame, personal identity, and isolation. Bernhard addresses these challenges and many more, using practical examples to illustrate how mindfulness, equanimity, and compassion can help readers make peace with a life turned upside down.
- Mindfulness exercises to alleviate physical and emotional pain
- Concrete advice for negotiating the everyday hurdles of medical appointments, household chores, and social obligations
- Tools for navigating the strains chronic illnesses such as Klippel Trenaunay syndrome can place on family and social relationships
Several chapters are directed toward family and friends of the chronically ill, helping them to understand what their loved one is going through and how they can help.
If you want to offer support and cheer to someone diagnosed with Klippel-Trenaunay syndrome, read Get Well Soon Messages and Gifts for Cancer Patients. The diseases are different, but the sentiments are the same.
Have you been diagnosed with Klippel Trenaunay syndrome or another chronic disease? You may find Heal Your Body A-Z: The Mental Causes for Physical Illness and the Way to Overcome Them interesting. I’m not saying KTS has a mental or emotional cause – it’s diagnosed at birth! But diseases like Klippel Trenaunay syndrome can bring on physical and emotional health complications that can be remedied by looking inward. Learning how your thought patterns affect your physical health can help you live in harmony with chronic illness.
A historical tidbit about the mis-named “Klippel-Weber-Trenaunay syndrome”
According to the National Organization for Rare Diseases’s page on Klippel-Trenaunay syndrome, the name “Klippel-Trenaunay syndrome” has been controversial in medicine since the first report of this rare congenital malformation and disease in the early 20th century. The French physicians, Klippel and Trenaunay, described patients with capillary stains, venous varicosities, and overgrowth.
At about the same time, English dermatologist Parkes Weber reported the combination of “hemangiomas” and overgrowth of a limb. Doctors thought the two syndromes were the same – but they are actually different. They didn’t realize this until more recently — but for many years, the names of all three medical doctors were linked as a confusing and incorrect medical condition “Klippel-Weber-Trenaunay syndrome,” which still is incorrectly used to this day.
Today, it’s well-recognized that Parkes Weber syndrome and Klippel-Trenaunay syndrome are two entirely different medical conditions. Parkes Weber syndrome consists of fast-flow, multiple microscopic arteriovenous connections with variable capillary staining of an enlarged limb (usually the lower extremity, which is partly why it was confused with KTS).
If you have any thoughts about Klippel Trenaunay syndrome – or you want to share your experience with it – please comment below. I can’t offer advice or additional information, but you may find it helpful to write about your experience with KTS, as a patient or family member.