Basic science and clinical aspects of vascular anomalies

Abstract

Purpose of review: Patients with vascular and lymphatic anomalies are often 'medical orphans' ascertained through distinct medical specialists. Multidisciplinary vascular anomalies programs provide focused expertise in diagnosis and treatment for patients. National and international workshops on vascular anomalies are fostering clinical and basic science research to enhance our understanding of vascular development and vascular anomalies. Herewith is presented an update of recent advances in the study of vascular/lymphatic anomalies.

Recent findings: New original findings include (1) the identification of distinct cell surface markers and other cellular properties in hemangiomas and vascular malformations relevant to vascular development, (2) the discovery of novel genetic mutations and susceptibility genes in patients with vascular anomalies, (3) recognition of new risk stratifications and clinical issues for patients with hemangiomas and vascular malformations, and (4) the elucidation of sequelae from the disorders as well as side effects of recent and previous therapies for vascular anomalies.

Summary: Vascular anomalies are an attractive model for the study of human disorders of vasculogenesis and angiogenesis. The etiology of these disorders is unclear and likely represents a multifactorial process. Clinical clues are leading to scientific investigations that may enable targeted therapies, prevention strategies, or both.