Two novel ENG variants in families with type 1 hereditary haemorrhagic telangiectasia

Hereditary Haemorrhagic Telangiectasia (HHT) is a rare autosomal dominant genodermatosis characterised by cutaneous and visceral telangiectasia, recurrent epistaxis, and Arterio-Venous Malformations (AVMs). In this manuscript, we describe two novel ENG variants in Maltese-Caucasian patients presenting with a variable inter- and intrafamilial clinical phenotypes. This report highlights the importance of diagnostic suspicion of HHT in the presence of cutaneous and/or mucosal telangiectasia and/or AVMs.