P ulmonary arterial hypertension (PAH) is defined as a group of diseases characterised by a progressive increase in pulmonary vascular resistance leading to right heart failure and ultimately to death. Familial cases segregate as an autosomal dominant trait with low disease gene penetrance. Mutations within the bone morphogenetic protein receptor type II gene (BMPR2), coding for a receptor of t...

CASE REPORT Our patient was a 45-year-old woman who had recurrent episodes of hematic epiphora, repeated epistaxes for which no cause was found and a family history of gastric hemorrhage. One of her daughters also suffered from spontaneous hemorrhages. DISCUSSION Hereditary hemorrhagic telangiectasia is rarely diagnosed by an ophthalmologist; however the occurrence of bloody tears occurring s...

Hereditary hemorrhagic telangiectasia (HHT), Osler-Weber-Rendu Syndrome, is an uncommon disease but may be present in many people who remain undiagnosed. It is an autosomal dominant disorder characterized by multiple arteriovenous malformations (AVMs) and telangiectases that affect multiple organ systems. Hereditary hemorrhagic telangiectasia patients have a propensity for bleeding, especially ...

REFERENCES 1. Shovlin CL, Wilmshurst P, Jackson JE. Pulmonary arteriovenous malformations and other pulmonary aspects of hereditary haemorrhagic telangiectasia. Eur Respir Monogr. In press. doi:10.1183/ 1025448x.10008410. 2. Shovlin CL. Hereditary haemorrhagic telangiectasia: pathogenesis, diagnosis and treatment. Blood Rev 2010;24:203e19. 3. Ahmedzai S, Balfour-Lynn IM, Bewick T, et al. Managi...

Hereditary hemorrhagic telangiectasia (HHT) is a vascular dysplasia characterized by telangiectases and arteriovenous malformations (AVMs) in particular locations described in consensus clinical diagnostic criteria published in 2000. Two genes in the transforming growth factor-beta (TGF-β) signaling pathway, ENG and ACVRL1, were discovered almost two decades ago, and mutations in these genes ha...