What is Hereditary haemorrhagic telangiectasia?

a condition characterised by multiple telangiectasia over the skin and mucous membranes

What is the inheritance pattern of Hereditary haemorrhagic telangiectasia?

autosomal dominant

What are the main clinical features of Hereditary haemorrhagic telangiectasia?

• epistaxis : spontaneous, recurrent nosebleeds
• telangiectases: multiple at characteristic sites (lips, oral cavity, fingers, nose)
• visceral lesions: gastrointestinal telangiectasia, pulmonary arteriovenous malformations (AVM), hepatic AVM, cerebral AVM, spinal AVM

How is Hereditary haemorrhagic telangiectasia diagnosed?

Clinical diagnosis