Hereditary haemorrhagic telangiectasia

Question 1

Also known as Osler-Weber-Rendu syndrome, hereditary haemorrhagic telangiectasia (HHT) is an

Answer 1

AD

Question 2

X

Question 3

C

Question 4

Features of HHT

Answer 4

multiple telangiectasia over the skin and mucous membranes

Question 5

meet 3 or more of the criteria they are said to have a definite diagnosis of HHT

Answer 5

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