64 - Peripheral Vascular Anomalies, Malformations, and Vascular Tumors

Abstract

Since the last edition of this book, there has been much activity in the field of vascular anomalies. There are newly recognized diagnoses, new genetic information, and new therapies. Although many questions remain regarding the cause of vascular anomalies, many of the questions are being answered as a result of research studies that are defining critical signaling mechanisms in vascular development. Medical therapies targeting these pathways are now being studied. VEGF, TEK, and PI3K/PTEN/AKT/TSC/mTORC1-related mutations have been identified. The classification of vascular anomalies has been updated. Collaborative studies are under way in an effort to standardize evaluation of patients, identify new genetic mutations, track the natural history of vascular anomalies, and test therapeutic response to new therapies. As more specialists are attracted to this field, multidisciplinary vascular anomalies centers organized in many institutions and training programs are including vascular anomalies in their curricula. Alliances with patient support groups are also expanding. Despite the above, physicians must obtain a thorough history and perform a complete physical examination to guide the diagnosis of and treatment plan for patients with vascular anomalies. This chapter aims to update the reader on several of these issues, and to provide a basic understanding of the status of this exciting field.