Hereditary haemorrhagic telangiectasia

Question 1

hereditary of haemorrhagic telangiectasia (HHT)

Answer 1

autosomal dominant

Question 2

clinical features of hereditary of haemorrhagic telangiectasia

Answer 2

multiple telangiectasia over the skin and mucous membranes

Question 3

x

Answer 3

x

Question 4

x

Answer 4

x

Question 5

x

Answer 5

x

Question 6

x

Answer 6

x

Question 7

x

Answer 7

x

Question 8

what are the main diagnostic criteria of hereditary haemorrhagic telangiectasia

Answer 8

epistaxis : spontaneous, recurrent nosebleeds

telangiectases: multiple at characteristic sites (lips, oral cavity, fingers, nose)

family history: a first-degree relative with HHT

visceral lesions: for example gastrointestinal telangiectasia (with or without bleeding), pulmonary arteriovenous malformations (AVM), hepatic AVM, cerebral AVM, spinal AVM