Antiagiogenic treatment for hereditary haemorrhagic telangiectasia

Abstract

Hereditary haemorrhagic telangiectasia (Rendu-Osler-Weber disease) is an autosomal dominant and rare disease with a prevalence of 1:5000, with multisystemic vascular involvement. The vascular endothelial growth factor (VEGF) deficit produces an aberrant formation or arteriovenous malformations (AVM), derive from different identified mu-tations that produce different types of HHT. Type 1 is due to a mutation in ENG gene which affects endoglin biosynthe-sis, and type 2 is due for a mutation in ACVRL1 gene which affects activin receptor-like protein kinase biosynthesis (ALK-1). Antiangiogenic antibodies such as bevacizumab are used in the treatment of severe anaemias due to complex nosebleeds that are difficult to control with applicable results. These have established basis for new treatments that are beginning to be studied and appear promising.