Klippel Trenaunay Syndrome (KTS)
Carla Sosenko, a well known copy editor and freelance writer has publicly announced that she is suffering from a rare disease called Klippel-Trenaunay Syndrome (KTS). Carla says she was born with the disease, which is a congenital circulatory disorder characterized by hemangiomas, arteriovenous abscesses, and varicose veins, mainly on the limbs.
The disease is painful and life-threatening but there are several treatments that work with varying success.
Surgical: Debulking is the most widely used treatment for the syndrome, but it is very invasive and is generally only used as a last resort.
Non-Surgical: Sclerotherapy is a treatment for individual veins in the affected area. Sclerotherapy involved injecting checmicles into the veins that will open them up to allow normal blood flow to resume.
Compression garments and massage therapy are also used to treat Klippel-Trenaunay Syndrome.
Professional golfer Casey Martin is another celebrated public figure who has the genetic defect – Martin successfully sued the PGA in 2001 under the Americans with Disabilities Act – he is now allowed to use a golf cart in professional tournaments.
Mayo Clinic has reported the largest experience in managing KTS with major surgery.
In 39 years at Mayo clinic the surgery team evaluated 252 consecutive cases of KTS, of which only 145 (57.5%) could be treated by primary surgery.
The immediate success rate for treating varicose veins was only 40%, excision of vascular malformation was possible in 60%, debulking operations in 65%, and correction of bone deformity and limb length correction (epiphysiodesis) had 90 % success. All the procedures demonstrated high recurrence rate in the follow up. Mayo clinic studies demonstrate that primary surgical management of KTS has limitations and non-surgical approaches need to be developed in order to offer a better quality of life for these patients.
Major surgery including amputation and debulking surgery does not seem to offer any benefit on a long-term basis.