Learn about Klippel-Trenaunay syndrome

Klippel-Trenaunay syndrome is also known as congenital vascular disorder. Manifestations are characterized by triads: less wine color; vascular malformations such as varicose veins; soft tissue hypertrophy, bone. Early detection and treatment of the disease will help you improve your quality of life better. Below, SignsSymptomsList will provide you with some essential information about Klippel-Trenaunay syndrome .

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1. Overview of Klippel-Trenaunay . syndrome

Learn about Klippel-Trenaunay syndrome

Klippel-Trenaunay syndrome is a rare disease

Klippel-Trenaunay syndrome – is a rare congenital disorder involving the abnormal development of blood vessels, soft tissues, bones and the lymphatic system. Key features include a red birthmark (wine stain); overgrowth of tissues and bones; and venous and associated malformations with or without lymphatic abnormalities.

Although there is no cure for Klippel-Trenaunay syndrome. However, treatment will help manage symptoms and prevent complications.

2. Manifestations of Klippel-Trenaunay syndrome

Symptoms of Klippel-Trenaunay disease

People with Klippel-Trenaunay syndrome may have the following features, which range from mild to severe:

Wine stains

It has a color that ranges from pink to purple-red. Because there are extra small blood vessels (capillaries) in the top layer of the skin. Birthmarks usually cover part of one leg, but can involve any part of the skin and can get darker or lighter with age.

Varicose veins

These include swollen, twisted veins (varices) on the surface of the legs. Abnormal deep veins in the arms, legs, abdomen, and pelvis. There may be spongy tissue filled with small veins in or under the skin. Venous abnormalities may become more prominent with age.

To learn more about varicose veins, please read more at: Understanding varicose veins, causes and treatment

Bone and soft tissue overgrowth

This condition begins in infancy and is usually limited to one leg. Occasionally, it can occur in the arms or rarely in the trunk or face. This overgrowth of bone and tissue produces a larger and longer limb. Rarely, fusion of the fingers, or the addition of fingers, occurs.

Lymphatic system abnormalities

The lymphatic system is the part of the immune system that protects against infection and disease. At the same time, it plays the role of transporting lymphatic fluid. When abnormalities occur, additional lymphatic vessels may be present. They don't work properly, leading to leaks and swelling.

Klippel-Trenaunay syndrome can also cause cataracts, glaucoma, hip dislocation at birth, and blood clotting problems.

3. Causes and risk factors of Klippel-Trenaunay syndrome

Learn about Klippel-Trenaunay syndrome

Klippel-Trenaunay syndrome occurs due to genetic causes

Reason

According to many studies, Klippel-Trenaunay syndrome occurs without genetic causes. It involves mutations in the PIK3CA gene, which is responsible for the growth of tissues in the body. Gene mutations occur randomly during cell division in the early stages of development before birth.

Risk factors

Family history does not appear to be a risk factor. Because parents with Klippel-Trenaunay syndrome will not pass the disease on to their children. The incidence is the same in men and women, regardless of sex or race.

Complications of Klippel-Trenaunay syndrome

Learn about Klippel-Trenaunay syndrome

Klippel-Trenaunay syndrome occurs in children

Abnormal growth of blood vessels, soft tissues, bones, and lymphatic system can cause many complications. Consists of:

Wine stains

Some areas of a wine stain can thicken over time and form blisters (bubbles). They are fragile, causing bleeding and infection.

Varicose veins

Varicose veins can cause great pain and skin ulcers due to poor blood circulation. Abnormal deeper veins can increase the risk of deep vein thrombosis. More seriously, they cause pulmonary embolism and rapid death. Varicose veins in the pelvis and abdominal organs can cause internal bleeding. Superficial veins can develop blood clots and less severe but painful inflammation. This condition is also known as superficial thrombophlebitis.

Bone and soft tissue hypertrophy

Overgrowth of bone and tissue can cause pain, a feeling of heaviness, enlarged limbs, and problems with movement. Sometimes this makes one leg longer than the other which can make walking difficult. Besides that can lead to hip and back problems.

Lymphatic system abnormalities

Fluid accumulation and swelling in the tissues of the arms or legs (lymphedema), skin breakdown and skin ulcers, growth of small masses (lymphatic cysts) in the spleen, leakage of lymphatic fluid or an infection of the subcutaneous layer ( cellulitis ).

Chronic pain

Learn about Klippel-Trenaunay syndrome

Klippel-Trenaunay syndrome causes vein problems

Pain can be a common problem due to complications from infection, swelling, or vein problems.

4. Diagnosis of Klippel-Trenaunay syndrome

Inquire about illness and health check

Learn about Klippel-Trenaunay syndrome

Ask about family and medical history

Referral to a specialist in vascular malformations is helpful for evaluation and treatment recommendations. During your doctor's evaluation:

  • Ask about your family and medical history
  • Check for swelling, varicose veins and wine stains
  • Visual assessment of bone and soft tissue growth

Tests

  • Duplex ultrasound: This test uses high-frequency sound waves to create detailed images of blood vessels.
  • MRI and magnetic resonance angiography : These procedures help differentiate between bone, fat, muscle, and blood vessels.
  • Computed tomography (CT ) scan : This method creates 3D images of the body that help look for blood clots in the veins.
  • Contrast angiography : This procedure involves injecting dye into a vein and taking X-rays that can reveal abnormal veins, blockages, or blood clots.

See also: Are X-rays dangerous to health?

5. Treatment of Klippel-Trenaunay syndrome

Learn about Klippel-Trenaunay syndrome

There is still no cure for Klippel-Trenaunay syndrome

Although there is no cure for Klippel-Trenaunay syndrome, it is possible to manage symptoms and prevent complications.

  • Physical therapy : Massaging, compressing, and moving the limbs when appropriate can help reduce lymphedema in the hands or feet and swelling of the blood vessels.
  • Wearing compression stockings or elastic bandages : is the most commonly used measure, especially for children.
  • Orthopedic devices : These may include orthopedic shoes or shoe inserts to compensate for differences in foot length.
  • Laser or radiofrequency ablation of veins: This minimally invasive procedure is used to close abnormal veins.
  • Therapies : A solution is injected into a vein, creating scar tissue that helps close the vein.
  • Surgery : In some cases, surgery to remove or reconstruct the affected veins, remove excess tissue, and correct overgrown bone may be beneficial.
  • In addition, treatment for complications such as bleeding, pain, infection, blood clots, or skin ulcers may be needed.

6. Home Remedies

Strategies to help manage Klippel-Trenaunay syndrome symptoms include:

  • Regular check-ups.
  • Use orthopedic shoes, if recommended. Orthopedic shoes or insoles can improve your physical function.
  • Follow your doctor's recommendations for physical activity. Encouraging use of the affected limb when appropriate can help reduce lymphedema and blood vessel swelling.
  • Elevate the affected limb. This helps reduce lymphedema.
  • Tell your doctor about the changes. Contact your doctor if you have symptoms of a blood clot or infection, if you feel more pain or swelling.

See more simple home remedies at: link here

Living with Klippel-Trenaunay syndrome can be challenging. Please adhere to treatment, and have regular check-ups to have a stable health. The above information is for reference only. If you suspect you have similar symptoms, see your doctor for further advice.

Doctor: Nguyen Van Huan


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