Hereditary Haemorrhagic Telangiectasia

Hereditary haemorrhagic telangiectasia

Also known as Osler-Weber-Rendu syndrome, hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant condition characterised by (as the name suggests) multiple telangiectasia over the skin and mucous membranes. Twenty percent of cases occur spontaneously without prior family history.

There are 4 main diagnostic criteria. If the patient has 2 then they are said to have a possible diagnosis of HHT. If they meet 3 or more of the criteria they are said to have a definite diagnosis of HHT:
epistaxis : spontaneous, recurrent nosebleeds
telangiectases: multiple at characteristic sites (lips, oral cavity, fingers, nose)
visceral lesions: for example gastrointestinal telangiectasia (with or without bleeding), pulmonary arteriovenous malformations (AVM), hepatic AVM, cerebral AVM, spinal AVM
family history: a first-degree relative with HHT

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