This is the vascular disorder characterized by the abnormality with the development of the blood vessels, the bones and the soft tissues of the body. Most of the affected individuals present the port-wine birthmark that is caused by the swelling of the blood vessels on the skin. This syndrome is estimated to affect around 1 in 100,000 individuals globally.
Causes
Klippel-Trenaunay syndrome develops as the result of a mutation in the gene PIK3CA gene which is important for the production of the subunit of an enzyme known as PI3K. This enzyme is involved in several cellular activities such as its growth, migration and cell survival. The mutation in the gene causes the PI3K to be abnormally active which causes the continuous growth and division of the cells resulting in the features associated with this condition. In some of the cases, this syndrome can also develop as the result of unidentified genetic mutation. Research suggests that the genetic mutation associated with the Klippel-Trenaunay syndrome is not inherited. Almost always, the genetic changes are sporadic and occur randomly in a single cell during the early development of the baby before the birth.
Symptoms
Individuals with this syndrome presents three features; the port wine birthmark (capillary malformation) that can affect the limbs, abnormal overgrowth of the bones and soft tissues, and veins malformations. The overgrowth of the bones and the soft tissues usually appear in the infancy and most often affects a single limb. The overgrowth causes pain and reduced movement. The malformations of the veins include varicose vein and twisted veins that can create pain. The malformation of the veins can cause the blood clot known as deep vein thrombosis that can lodge in the lungs resulting in a life-threatening condition called pulmonary embolism. The severity and the symptoms in each case of this disorder can vary. Additional symptoms can include vaginal bleeding, cellulitis, internal organ involvement, blood in the urine and rectal bleeding. Women with this disorder have reported an increase in the symptoms particularly during hormonal changes such as puberty and menopause. These additional symptoms include tingling sensation, exercise intolerance, a heaviness of the affected limb, heart palpitations and headaches.
Diagnosis
The diagnosis of Klippel-Trenaunay syndrome is based on the identification of the symptoms associated with this condition. Some of the tests used to detect the extent of the problem include a CAT and MRI scans to help determine the treatment options.
Treatment
The capillary malformation can be improved with the laser therapy and a replacement with a split-thickness skin graft. The compression garment can be useful to reduce the pain and the swelling. Cellulitis infection is treated with antibiotics and sclerosing therapy involves an injection that can destroy veins in some of the cases. Iron supplements may be required for anemia and surgical procedures need to be considered as these cases can exhibit post-surgery complications.
References
https://rarediseases.org/rare-diseases/klippel-trenaunay-syndrome/
https://ghr.nlm.nih.gov/condition/klippel-trenaunay-syndrome#inheritance
http://www.sturge-weber.org/medical-matters/klippel-trenaunay-syndrome.html
