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 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 lymphatic and venous system. In veins it leads to the formation of varicose veins.
Klippel trenaunay syndrome affect 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.
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 occur due to mutation in a particular gene type. It occurs due to autosomal dominant pattern of inheritance.
Due to genetic defect there occurs association between angiogenic factor genes AGGF1and KTWS which is very significant.
KTWS is produced by 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 haemangioma is the first sign to appear. This haemangioma is mostly present on the lateral side of affected limb. The depth of haemangioma is variable. The haemangioma 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 Are At Risk?
Both male and females are equally affected by klippel trenaunay weber syndrome.
As 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 particular form of race is affected by this 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 lot of stress.
There are many other causes that leads to 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 development of KLTWS is the presence of pathogenic gene for vascular and tissue growth.
During embryogenesis (development of 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.
• Blood vessel defects leads to the formation of signs on skin like port wine stain; dark brown spots on skin, stains have sharp borders around them.
• Other defect on vessels is varicosity of veins of limb; varicose veins are seen in infancy and are more prominent in childhood and adolescence.
• Other associated symptoms when varicosity occur at other affected organs are
Bleeding occurs from the outlet of gastric tract that is rectum.
There may be presence of blood in urine.
• Lymph tissues are not properly developed.
• Due to blockage of 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.
• In KTWS in rare cases occurs the shrinkage of affected limb.
• The patients in which venous derangement is more than lymphatic shows the symptom of excessive pain in affected limb and complications occur there.
• Sometimes due to vessel defects there is formation of emboli in vessels that can reach up to the lungs and can cause pulmonary embolism.
• Heart failure occurs as a complication of this syndrome.
Many patients lead a very good life but in cases where there occurs hypertrophy of limbs appearance of patient are affected. In cases of children their appearance can affect their mental growth and can lead to psychological set back.
When this syndrome affect the internal viscera’s of body organ failure can occur.
Complications when occur in form of emboli can lead to respiratory failure or heart failure or can lead to coma if emboli reaches brain vessels.
• Maffucci syndrome.
• Proteus 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 very early age.
• Doppler diagnostic test to find the severity of varicosity of vein.
• Blood test to find the infection
• Platelet count
• Medication includes
• Massages to the affected limb leads to relieve of pain.
• Raising the affected limb up while lying at night lead to decrease in edema of the limb.
• Surgical intervention needed in cases of varicosity.
• Varicose veins are present on legs.
• Decubitus ulcers on legs which are worse on application of warmth.
• Profuse, sour, offensive perspiration of feet.
• There is atony of capillary and venous system.
• Ulcers are present on tibia.
• Patient’s nails grow rapidly, and crumble easily.
• In long bones there occur caries and necrosis.
• There is drawing and tearing pain in limbs, along with numbness when patient is taking rest and at night time.
• There is tearing type of pain in shoulder and elbow joint.
• There is profuse sweating on foot.
• Patient is unable to lie on painful side.
• There is numbness of hands and feet.
• There is twitching and jerking in limbs.
• There is feeling in the limbs as if beaten and very painful.
• There is crural neuralgia.
• Patient complains of pain in nates which is extending to hip joint and lumbosacral region.
• There is bruised feeling in the muscles of calves.
• Stiffness of joints is marked.
• Patient is unable to let his limbs hang down because if he do so there is painful sensation as if the limbs would burst of and that’s why he keep his limbs elevated.
• Pain is unbearable for patient.
• There is present varicosity of veins and acute phlebitis.
• Veins are swollen, sensitive to touch and there is bursting type of pain is present.
• Patient complains of severe cramps in lower limbs.
• Patient complains of pain in thighs and legs which is tensive type and along with this patient complains of restlessness, sleeplessness and chilliness.
• There is numbness around the elbow joint.
• Swelling of knees with drawing and tearing pain.
• Veins of arms and hands are swollen.
• Feet are swollen and red in color due to inflammation.
• In legs there is feeling of weariness and heaviness.
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