Advances in the Medical Management of Vascular Anomalies

Abstract

Vascular anomalies comprise a spectrum of diseases that are broadly classified as tumors and malformations. Diagnosis is often challenging, given a wide range of clinical presentations with overlapping signs and symptoms. Accurate diagnosis is critical to determine prognosis and to generate a management plan, which frequently involves multiple subspecialists during different phases of treatment. An updated classification system provides structure and clear, consistent terminology, allowing for improved diagnosis, provider communication, and collaboration. Historically, treatment of vascular anomalies was primarily surgical and medical therapies were limited or ineffective. Recent discoveries of pharmacologic agents effective in treating vascular anomalies have broadened our medical therapeutic options, limiting the need for unnecessary or high-risk procedures and improving patients' quality of life.

Oral and Topical Sirolimus for Vascular Anomalies: A Multicentre Study and Review

“…Histori cally, VMs have been primarily treated by procedural interventions to achieve local control, such as excision, embolization, sclerotherapy, debulking and pulsed dye laser. In contrast, treatments of VTs have been based mostly on medical therapy; infantile haemangiomas are mostly treated with propranolol when indicated, whereas other VTs might be treated with steroids, vincristine, interferon, chemotherapeutic agents or radiotherapy or surgery (7,8). Nevertheless, some of these complicated VAs are refractory to the abovementioned treatment modalities.…”

“…This patient had a rapid and dramatic response to sirolimus treatment. Since this initial success, the use of sirolimus has expanded rapidly (8). While initially explored for KHE and lymphatic malformation (LM) (26)(27)(28), sirolimus is now being used broadly throug hout the VA spectrum and is showing promising results in both systemic administration (10,(29)(30)(31) and topical administration (32)(33)(34).…”

A Primer on a Comprehensive Genetic Approach to Vascular Anomalies

“…Vascular tumors include both benign, locally aggressive, and malignant tumors comprised of one or more vascular components (7,62). The molecular etiology of many of these tumors is unknown, but some candidate genes have recently been identified ( Table 10).…”

Vascular Anomalies (Part I): Classification and Diagnostics of Vascular Anomalies

“…Even in the presence of increasing awareness of rare diseases, congenital vascular anomalies remain a diagnostic and therapeutic challenge for interventional radiologists, physicians and surgeons involved in the treatment of this entity [1]. To date, reliable data regarding the real number of affected patients in national and international treatment facilities is not available.…”