Presentation and Management of Klippel-Trenaunay Syndrome: A Review of Available Data

Fahham Asghar,Ramsha Aqeel,Umar Farooque,Muhammad Taimur,Aatera Haq

doi:10.7759/cureus.8023

Abstract

Klippel-Trenaunay Syndrome (KTS) is a rare and sporadic congenital disorder, characterized by the classical triad of port-wine stains, varicosities along with bone and soft tissue hypertrophy. Symptoms of Klippel-Trenaunay Syndrome include pain, swelling, lymphedema, bleeding, superficial thrombophlebitis, and deep vein thrombosis. The etiology remains indistinct and has been attributed to both genetic and environmental factors. In most cases, a thorough history and clinical examination is enough for the diagnosis of Klippel Trenaunay Syndrome. However, when certain complications are present, noninvasive imaging techniques are used for the diagnosis and evaluation of the disease in patients. Due to the diversity of presentation, a multidisciplinary approach is essential for the proper management of such patients. At present, there is no cure for the disease; rather, symptomatic treatment is employed in order to improve the patients' quality of life. In this review, we provide a brief overview of the clinicopathological profile and management of Klippel-Trenaunay Syndrome.

Highlights

Klippel-Trenaunay Syndrome was first described in the year 1900 by two French physicians, Maurice Klippel and Paul Trenaunay, in two patients with hemangiomatous lesions of the skin associated with asymmetric soft tissue and bone hypertrophy [1]
Klippel-Trenaunay Syndrome has been listed as a “rare disease,” which presents at birth, early infancy, or childhood
Servelle was opposed by a study in which the results showed normal deep veins in 60% and normal calf pump function in 84% of patients with Klippel-Trenaunay Syndrome (KTS) [13]

Summary

Introduction

Klippel-Trenaunay Syndrome was first described in the year 1900 by two French physicians, Maurice Klippel and Paul Trenaunay, in two patients with hemangiomatous lesions of the skin associated with asymmetric soft tissue and bone hypertrophy [1]. The diagnosis is generally dependent on two of the following features of the classical triad of KTS [4]: Cutaneous hemangiomas (port-wine-stains) Varicosities Bone and soft tissue hypertrophy. The distribution of these symptoms in patients has been described by various studies. Another study conducted in 1991 on KTS reviewed 144 patients, of which 95.1% had a cutaneous vascular malformation, 93.1% had soft tissue or bony hypertrophy, and one lower extremity was affected in 71.5% [6]. GI bleeding usually starts in the first decade of life and the most commonly reported source is the diffuse cavernous hemangiomas of the distal colon and rectum These occur in an estimated 1%-12.5% of KTS cases [23,24]. The results are usually slow to develop [40]

Conclusions

Findings

Disclosures