Abstract
Among individuals with hereditary haemorrhagic telangiectasia (HHT), an estimated 40–50% have pulmonary arteriovenous malformations (PAVMs) (anomalous direct communications between pulmonary arteries and veins without an intervening capillary network) visible on computed tomography (CT) [1, 2]. Hypoxaemia, haemorrhage and paradoxical embolisation are some of the potentially serious complications associated with untreated PAVMs [2, 3]. There is, in general, a paucity of published sex-based data on HHT, including on PAVMs [4]. In one analysis of ∼1300 individuals with HHT cared for at a single centre in the Netherlands, PAVM frequency was observed to be ∼15% higher among females than males with HHT-1 (caused by mutation in the endoglin gene) but not with HHT-2 (caused by mutation in the activin A receptor type-like kinase 1 (ACVRL1) gene) [4]. This large, multinational, sex-based analysis among individuals with HHT showed that pulmonary AVM frequency, physical characteristics, presentation, complications and management do not generally significantly differ between males and females https://bit.ly/3TNLA6v