Evolving medical treatment for vascular malformation

Abstract

Vascular malformations are abnormal growth or development of the vascular structure that result from genetic mutations during early vascular development. Traditional invasive treatment for vascular malformations includes embolo-sclerotherapy, cryotherapy, laser therapy and surgery. However, surgical or minimally invasive treatment is rarely optimal due to the risk of treatment complications, and a complete cure is often difficult to achieve. Targeted therapy can be guided by the current understanding of molecular signalling pathways and disease classifications. Existing and novel medical treatments target the major cellular signalling pathways implicated in the pathogenesis of vascular malformations: mTOR inhibitors, phosphatidylinositol-4,5-biphsophate 3-kinase catalytic subunit alpha (PIK3CA) inhibitors, and AKT inhibitors are being developed to target the Phosphoinositide 3-Kinase (PI3K)/AKT/mTOR pathway, while mitogen-activated protein kinase (MEK) inhibitors and BRAF inhibitor are being researched to target the RAS/RAF/MEK/ERK pathway. Angiogenesis inhibitors are also utilised in the treatment of vascular abnormalities. This review aims to discuss the evolving medical therapy available in the treatment of Vascular Malformations.

Keywords: Vascular malformation; drug therapy; genetic mutation; medicine; molecular biology; pharmacological therapy.