Management of Combined Vascular Malformations.

Abstract

Combined vascular malformations are complex, heterogeneous lesions increasingly classified by anatomic components and genetic drivers, specifically the PI3K/AKT/mTOR pathway (PROS) and RASA1 mutations. These syndromes, including Klippel-Trenaunay, CLOVES, and capillary malformation-arteriovenous malformation, present with soft-tissue hypertrophy, skeletal overgrowth, and varied vascular anomalies. Effective management requires a multidisciplinary approach to address complications such as thromboembolism, localized intravascular coagulopathy, and limb-length discrepancy. Diagnostic evaluation relies on ultrasound and MRI. Therapeutic interventions have evolved from conservative compression and sclerotherapy to targeted pharmacotherapy (sirolimus, alpelisib) and individualized surgical debulking, with the aim of improving functional outcomes and quality of life.