Clinical Approaches to the Diagnosis and Treatment of Vascular Anomalies

LEARNING OBJECTIVES: After studying this article, the participant should be able to: 1. Classify vascular anomalies as either proliferative tumors or structural malformations using the current International Society for the Study of Vascular Anomalies biological framework. 2. Identify key molecular pathways and somatic mutations that serve as targets for modern medical therapies. 3. Differentiate between high-flow and slow-flow malformations based on hemodynamic characteristics observed in Doppler ultrasound and magnetic resonance imaging. 4. Summarize the indications, mechanisms of action, and potential adverse effects of primary pharmacologic agents, including propranolol and sirolimus. 5. Formulate a multidisciplinary management plan that integrates medical, laser, and surgical modalities tailored to specific anomaly subtypes. SUMMARY: Vascular anomalies encompass a heterogeneous group of disorders, from simple birthmarks to complex, life-threatening lesions. Effective management is predicated on the International Society for the Study of Vascular Anomalies classification, which provides a biological framework for differentiating proliferative vascular tumors from structural vascular malformations. In this article, the authors synthesize current knowledge on the epidemiology, clinical presentation, and pathophysiology of these conditions, including significant advances in molecular genetics that have identified key driver mutations in signaling pathways, such as PI3K/AKT/mTOR and RAS/MAPK. This understanding has not only refined diagnosis but also ushered in an era of targeted medical therapies. The present article outlines a systematic approach to diagnosis, combining clinical acumen with essential imaging modalities and strategic genetic testing. Current management strategies for vascular anomalies include observation, medical therapy (eg, propranolol and sirolimus), laser treatment, endovascular interventions, and resection. Given the complexity of these conditions and their multisystemic nature, a coordinated, multidisciplinary team approach is essential for optimizing patient outcomes.