This article was written by M. Sean Freeman, MD  The Center for Facial Plastic & Laser Surgery 11220 Elm Lane Suite 101 Charlotte, NC  28277 704-532-2818

KT Syndrome was originally described by Klippel and Trenaunay in a French publication in the year 1900 1 . Their original description was that of patients characterized by the triad of varicose veins, cutaneous vascular hemangiomas, and symmetrical hypertrophy of the affected limb. Since their original description, much has been learned of this malady.

In a review of 144 patients by Gloviczki et. al. a good summary of the natural history, typical presentation as well as suggested treatment options is presented 2 . In general there is no known cause of K-T syndrome and it does not have any perceivable hereditary component. The syndrome is found in a slightly larger percentage of females than males in most large reviews in the literature 2,3 . Vascular cutaneous lesions most commonly of the capillary and/or venular malformation classification were noted in almost 100% of patients and was in general the first noticeable sign of the syndrome. Soft tissue and/or skeletal enlargement is also found in the vast majority of patients. In a review of 47 children that presented with K-T syndrome Samuel and Spitz found that the mean age at presentation was 4.7 yrs. and that 100% of children already had vascular malformations of the capillary and / or venular type along with soft tissue hypertrophy of the affected limb at the time of presentation 4 . In the vast majority of patients the vascular malformation of the capillary or venular type was noted at birth or within two weeks.

Within the first several years of life the large venous varicosities, the other cardinal feature of this entity, are typically evident. Other presenting complications that can be noted in a significant percentage of patients are pain associated with thrombophlebitis, cellulitis, or gangrene. At times these problems can be severe enough that amputations may be required from the toe to occasionally above the knee. Even though the superficial and/or deep venous systems can be filled with thrombi, pulmonary emboli are not a typical feature of this disease. As can be seen with hemangiomas, a significant percentage of K-T patients will at some point develop Kasabach-Merritt syndrome (approximately 30 - 40%) with or without high output cardiac heart failure. In a minority of patients visceral involvement is noted and can result in vaginal and /or rectal bleeding.

Despite the many problems listed above the average patient with K-T syndrome has a good long term prognosis. The most important initial point being that an accurate diagnosis is rendered and early diagnosis and aggressive management of Kasabach-Merritt syndrome is accomplished. Diagnosis is typically made by a combination of pertinent history along with the characteristic physical findings along with the necessary radiological work up. The appropriate radiological evaluation would usually involve a MRI with additional evaluation of the venous blood supply ( to the heart) and possibly the arterial blood supply ( from the heart) when the physician finds it is appropriate. In particular the physician will want to verify that there is not a significant direct connection between the arterial system and the venous system. This is called an A-V shunt and changes the classification to Parkes-Weber syndrome which has a different expected clinical course.

The average patient with K-T syndrome will require treatment limited to leg elevation and the use of compressive stockings and can expect a normal life span with progression of the disease ceasing in the late second or third decade. However there are patients that will require surgical intervention for various reasons. As mentioned earlier, amputations are occasionally necessary. On the other end of the spectrum, the limb can become too long and require orthopedic intervention to shorten it and improve the patient's ability to ambulate. Occasionally sclerosing agents may be required to control bleeding varices. The most controversial intervention is the direct excision of symptomatic or cosmetically disturbing varicosities or hemangiomas. In general these latter procedures should not be considered unless the patient has had a thorough evaluation by a vascular surgeon familiar with the management of these unique patients along with a comprehensive radiological evaluation that noted a patent deep venous system of the affected limb and pelvis is present.

1.Klippel M, Trenaunay P. Du naevus variquex osteohypertrophique. Arch. Gen. Med. (Paris) 1900;3:641-672

2.Gloviczki P, Stanson SW, Stickler GB et al. Klippel-Trenaunay syndrome: the risks and benefits of vascular interventions. Surgery 1991;110: 469-479

3.Servelle M. Klippel and Trenaunay's syndrome. 768 operated cases. Ann. Surg. 1985;201:365-373

4.Samuel M, Spitz L. Klippel-Trenaunay syndrome: clinical features, complications and management in children. Br. J. of Surg. 1995;82: 757-761

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