What is Klippel Trenaunay Syndrome? How to manage it? What are the precautions to be taken? What are the signs and symptoms? What is the cause of this disease? How to treat it? How can homeopathy help you? All of this answered, in this post and of course our doctors always there to help you. Just fill in your details in the form down below and we will answer all your questions for FREE!
What is Klippel trenaunay syndrome?
Klippel trenaunay syndrome is a rare congenital malformation where blood vessels and lymph vessels of the limbs do not develop properly and show abnormalities which involve the following three structures-
• Malformation the capillaries presented as reddish purplish birthmark known as port wine stain (nevus flammeus).
• Overgrowth of bone tissue or soft tissue of one or both the limbs leading to the formation of larger and longer limbs.
• Malformation in the lymphatic and venous system. In veins, it leads to the formation of varicose veins.
Klippel trenaunay syndrome affects most commonly one limb especially leg, decreasing order of affected part of the body is legs, arms, the trunk, rarely head and neck are affected.
What is the pathophysiology of Klippel trenaunay syndrome?
The exact cause of development of KTWS syndrome is unknown but different scientists reveal different theories for the cause of this syndrome. Most probably KTWS syndrome is an inherited syndrome. KTWS occurs due to a mutation in a particular gene type. It occurs due to autosomal dominant pattern of inheritance.
Due to genetic defect there occurs an association between angiogenic factor genes AGGF1and KTWS which is very significant.
KTWS is produced by a single gene defect which is lethal (dangerous) in those individuals who are homozygous for this gene.
In KTWS the port wine stain i.e. the capillary hemangioma is the first sign to appear. This hemangioma is mostly present on the lateral side of the affected limb. The depth of hemangioma is variable. The hemangioma not only involves the skin but also the subcutaneous tissue i.e. includes muscles and bones. In some cases, visceral organs are also affected especially spleen, the liver, bladder, and colon.
Other defects present in KTWS syndrome is varicosity of veins. In KTWS veins are large, lateral and superficial and are prominent at the time of birth.
Who is more prone to get affected by Klippel trenaunay syndrome?
Both male and females are equally affected by klippel trenaunay weber syndrome.
Klippel trenaunay syndrome is a genetic disorder and it is presented more at birth or during infancy or early childhood.
This syndrome can occur in any race not a particular form of race is affected by this syndrome.
What are the causes of Klippel trenaunay syndrome?
The cause of KTWS is mainly defective genes. This syndrome occurs due to autosomal dominant genes, especially in homozygous individuals.
This type of genetic disorder occurs in that fetus the mother of who are exposed to nuclear radiation or a lot of stress.
There are many other causes that lead to the development of defective gene and the most common cause is stress on mother during pregnancy or exposure to chemicals or taking steroidal medicines for certain diseases.
Other causes that lead to the development of KLTWS is the presence of the pathogenic gene for vascular and tissue growth.
During embryogenesis (development of the embryo) when there is loss of heterozygosity from the somatic mutation there occur the defects forming to KTW syndrome.
Due to deep vein derangement lead to varicosity of veins finally blocking the vein flow pathway and leading to hypertrophy of the affected limb.
What are the signs and symptoms of Klippel trenaunay syndrome?
• Blood vessel defects lead to the formation of signs on the skin like port wine stain; dark brown spots on the skin, stains have sharp borders around them.
• Another defect on vessels is varicosity of veins of limb; varicose veins are seen in infancy and are more prominent in childhood and adolescence.
• Varicosity
– Gastric Bleeding is present.
There may be the presence of blood in the urine.
• Lymph tissues are not properly developed.
• Due to blockage of the lymphatic or vascular system there occurs the hypertrophy of the affected limb. Due to this, there is excessive enlargement of the limb giving the signs of local gigantism.
• Rarely the affected limb shrinks.
• The patients who have venous derangement more than lymphatic have excessive pain in the affected limb
• Sometimes due to vessel defects, there is the formation of emboli in vessels that can reach up to the lungs and can cause a pulmonary embolism.
• Heart failure occurs as a complication of this syndrome.
What is the prognosis of Klippel trenaunay syndrome?
Many patients lead a very good life but in cases where there occurs hypertrophy of limbs appearance of the patient are affected. In cases of children, their appearance can affect their mental growth and can lead to a psychological setback.
When this syndrome affects the internal viscera of body organ failure can occur.
Complications, when occurring in the form of emboli, can lead to respiratory failure or heart failure or can lead to coma if emboli reach brain vessels.
What is the differential diagnosis of Klippel trenaunay syndrome?
• Maffucci syndrome.
• Proteus syndrome.
What are the complications of Klippel trenaunay syndrome?
• In cases of hemangioma there are skin ulcerations and breaking of skin, also occur bleeding opening of the wound can increase the risk of infection and ultimately lead to ulcer formation.
• Due to hypertrophy of limbs there occurs vertebral scoliosis, abnormalities of gait, compromise of functions.
• Patients suffering from KTWS tend to develop degenerative changes in joints at a very early age.
What investigations are advised in Klippel trenaunay syndrome?
• Doppler diagnostic test to find the severity of varicosity of the vein.
• A blood test to find the infection
• Platelet count
• WBC’s
• ESR
What treatment is advised in cases of Klippel trenaunay syndrome?
• Medication includes:
-Analgesics
-Antibiotics
-Corticosteroids
• Massages to the affected limb lead to relieving of pain.
• Raising the affected limb up while lying at night leads to a decrease in edema of the limb.
• Surgical intervention needed in cases of varicosity.
What homeopathic remedies are indicated in cases of Klippel trenaunay syndrome?
-Fluoric acid
-Lycopodium
-Staphysagria
-Vipera berus
-Pulsatilla pratensis
For more information, you can visit NIH and rarediseases.
