Pulmonary thromboembolic events in patients with congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and spinal/skeletal abnormalities and Klippel-Trénaunay syndrome

Abstract

Objective: Patients with Klippel-Trénaunay syndrome (KTS) and congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and spinal/skeletal abnormalities (CLOVES) syndrome have central phlebectasia and enlarged persistent embryonic veins that are often incompetent and prone to thromboembolism. The purpose of the study was to determine the presence of phlebectasia and the incidence of symptomatic pulmonary embolism (PE).

Methods: A retrospective review was conducted of patients referred to the Vascular Anomalies Center at our institution during a 21-year period who were diagnosed with KTS and CLOVES syndrome. Of these, the patients who had PE were screened for thromboembolic risk factors in addition to phlebectasia and the presence of persistent embryonic veins. Treatment outcomes following subsequent endovascular and medical therapies were reported.

Results: A total of 12 KTS patients of 96 (12.5%) and 10 CLOVES syndrome patients of 110 (9%) suffered PE. Fourteen patients (64%) developed PE after surgery or sclerotherapy. All of the patients had abnormally dilated central or persistent embryonic veins; 20 patients were treated with anticoagulation (1 died at the time of presentation, and no information was available for 1) after PE, and 14 (66%) patients underwent subsequent endovascular treatment. Five patients developed recurrent PE despite anticoagulation. Two of the patients died of PE. No patients treated with endovascular closure of dilated veins had subsequent evidence of PE.

Conclusions: Patients with KTS and CLOVES syndrome are at high risk for PE, particularly in the postoperative period.

Keywords: CLOVES; Klippel-Trenaunay; PIK3CA; Pulmonary embolism.