Stephan Moll, MD writes… Klippel-Trenaunay Syndrome (KTS) is a rare congenital disorder of capillary, venous and lymphatic malformations and a localized disturbed growth of bone and/or soft tissue (see photographs)[ref 1]. Patients with KTS are at significantly increased risk for DVT, PE and superficial thrombophlebitis. KTS affects only one side of the body, typically the leg or the arm, sometimes both. It can also involve the trunk and face and inner organs. Chronic pain and swelling of leg and arm can be a problem. The swelling may lead to skin breakdown (ulcers). A patient support group for KTS exists with an informative website.
DVT and PE in Patients with Klippel-Trenaunay Syndrome
Superficial thrombophlebitis, DVT and PE are not uncommon in patients with KTS: (a) a study of 49 patients with KTS showed that 11 (22.5 %) had DVT and PE problems [ref 2]; (b) a study of 47 children with KTS showed DVT or PE in 11 % and superficial thrombophlebitis in 53 % [ref 3]; and (c) a study of 68 patients reported a history of DVT or PE in 17 %, and of superficial thrombophlebitis in 48 % of patients [ref 4].
The recurrence rate of blood clots and the best treatment are not known. Open questions are:
- Do patients need to be on long-term warfarin after a first episode of DVT or PE?
- Should patients with DVT or PE be treated with warfarin or low molecular weight heparin rather than with warfarin?
- Would the new oral anticoagulants Pradaxa® (Dabigatran) or Xarelto® (Rivaroxaban) be effective choices?
- In the patient with DVT, should an IVC filter be placed to prevent PE?
- What is the risk of recurrence of DVT or PE during pregnancy and how should pregnant women with KTS be managed? [ref 5]
How are KTS patients best treated?
- Awareness, Prophylaxis: As quite a few patients with KTS develop superficial thrombophlebitis, DVT or PE, patients should know the symptoms and risk factors of blood clots, so they recognize them quickly and seek medical attention and rapidly get diagnosed and treated. They also need good DVT prophylaxis in risk situations, such as at times of surgery and hospitalization. Women need to know about their risk of VTE with contraceptives and pregnancy.
- Anticoagulant choice: A 2005 publication [ref 6] reviewed all published cases of PE in individuals with KTS (10 patients are listed in the analysis), summarizing that several patients had recurrent DVT or PE in spite of being on warfarin (Coumadin®, Jantoven®). The authors of the article, therefore, concluded that “if DVT or PE is diagnosed, then these patients should receive therapy with low molecular weight heparin”. However, it has not been studied whether low molecular weight heparin is truly more effective in preventing blood clots. At present, it appears fair to conclude, that there is some risk for recurrence of VTE, even while the patient is on adequate doses of warfarin. However, because of a lack of studies, publications and extensive experience, there are no established and accepted guidelines on treatment. Individual decisions need to be made
- IVC filter: It is not clear whether patients with KTS who have had a VTE may benefit from having an IVC filter placed. Individual decisions need to be made.
- Risk for bleeding: Lastly, since venous malformations may also be seen in the inner organs, such as the intestine, some patients with KTS have an increased risk for bleeding, putting the patient at increased risk for bleeding if long-term anticoagulants are used.
- Tian XL et al: Identification of an angiogenic factor that when mutated causes susceptibility to Klippel-Trenaunay syndrome. Nature 2004;427:640-645.
- Baskerville PA et al: Thromboembolic disease and congenital venous abnormalities. Phlebologie 1987;40:531-536.
- Samuel M et al: Klippel-Trenaunay syndrome: clinical features, complications and management in children. Br J Surg 1995:82:757-761.
- Douma RA et al. Chronic pulmonary embolism in Klippel-Trenaunay syndrome. J Am Acad Dermatol 2012;66:71-77.
- Güngor Gündoğan T et al. Klippel-Trenaunay syndrome and pregnancy. Obstet Gynecol Int 2010:706850. Epub 2010 Dec 19.
- Hiras, EE et al: Pulmonary thromboembolism associated with KTS. Pediatrics 2005;116:e596-e600.
Last updated: May 25th, 2012