Hereditary Haemorrhagic Telandiectasia

Question 1

What is it?

Answer 1

Known as Osler Weber Rendu Syndrome
Autosomal dominant condition characterised by presence of multiple telangiectasia over the skin and mucous membranes

Can occur without family history

Question 2

What are the clinical features?

Answer 2

4 main diagnostic criteria
2/4- probably diagnosis
3/4- definite diagnosis

1) History of epistaxis
2) Presence of telangiectasia
3) Visceral lesions e.g. within GI tract- may have a bleed
4) FH of similar symptoms/signs