Hereditary haemorrhagic telangiectasia (HHT) (MIM #187300, ORPHA:774), also known as Rendu-Osler-Weber disease, is a rare autosomal dominant vascular disorder and the second most common inherited bleeding disorder [1], characterised by mucocutaneous telangiectases and visceral arteriovenous malformations (AVMs) predominantly affecting the lungs, liver, brain and gastrointestinal tract [2,3]. Clinical diagnosis is based on the Curaçao criteria, which include recurrent epistaxis, mucocutaneous telangiectases, visceral AVMs and a first-degree relative with HHT [4].
