Diagnosis and management of the venous malformations of Klippel-Trénaunay syndrome

Abstract

KTS is characterized by a clinical triad of extremity varicosities, cutaneous vascular malformations, and hypertrophy of soft tissues and long bones. The diagnosis is clinically supplemented with magnetic resonance imaging and computed tomography. Although this syndrome is associated with significant comorbidities, such as pain, edema, ulcerations, and pruritus, it is rarely the cause of death. The backbone of treatment is nonoperative in nature but should be supplemented with minimally invasive, endovascular, and rarely open surgical procedures for refractory cases.

Diagnosis of Klippel-Trenaunay syndrome and extensive heterotopic ossification in a patient with a femoral fracture: a case report and literature review

“…Vascular malformations in KTS usually affect the capillary, venous, and lymphatic systems of the lower extremities, which leads to swelling, varices, and ulcerations of the diseased limb [1]. Elevated D-dimer levels and mutation of the AGGF1 gene are considered to suggest the diagnosis [8].…”

Cellular and molecular mechanisms of PIK3CA-related vascular anomalies

“…Two syndromes having these complex mixed vascular overgrowth lesions are Klippel-Trenaunay syndrome (KTS) (41) and Congenital Lipomatous Overgrowth, Vascular malformations, Epidermal nevi, Scoliosis/skeletal and spinal syndrome (CLOVES) (42). KTS diagnosis depends on three key features, cutaneous capillary malformations, venous and lymphatic malformations, and asymmetric hypertrophy of bones and overlying soft tissue (43,44). The presentation of KTS is heterogeneous and there is substantial crossover in presentation of KTS with PIK3CA-Related Overgrowth Syndromes (PROS) (40).…”

Klippel-Trenaunay syndrome: case report and literature review

“…It is generally accepted that KTS is a congenital disorder, in which blood and lymph vessels do not properly form during intrauterine development [11,[14][15][16]. KTS is postulated to be the result of sporadic mutations, including chromosomal translocations such as: t(5;11) (q13.3;p15.1) [17,18] or t(8;14)(q22.3;q13) [19], supernumerary ringed chromosome 18 [20], mutations in the PIK3CA gene [21], and somatic mutations in RASA 1 gene [22][23][24]. Other possible theories deal with embryonic disturbed vasculogenesis [25,26], mesodermal defects or somatic mosaicism of a dominant lethal gene [27].…”

“…Persistent embryonic veins, such as the lateral marginal vein ("vein of Servelle", "Klippel-Trenaunay vein") and the persistent sciatic vein are characteristic for KTS. The prevalence rate of these veins is estimated from 9% to 68% [1,2,15,16,21,26,30]. The lateral vein starts from a dorsal venous, runs along the lateral side of the lower limb, and attaches to the profunda femoris vein, the superficial femoral vein, the popliteal vein, the internal vein via gluteal veins, or the external iliac vein [15].…”