Hereditary Haemorrhagic Telangiectasia Flashcards
1
Q
How is it inherited ?
A
Autosomal dominant
2
Q
What are the 4 main diagnostic criteria?
A
Epistaxis - spontaneous, recurrent nosebleeds
Telangiectases- multiple at characteristic sites ie lips, oral cavity, fingers, nose
Visceral lesions
FH - first degree relative with HHT
3
Q
What do visceral lesions mean?
A
GI telangiectasia with or without bleeding
Pulmonary AV malformations
Hepatic AVM
Spinal AVM
4
Q
What percentage of those with HHT experience epistaxis?
A
90%
5
Q
What symptoms can occur with lung AVMs?
A
Haemoptysis
Dyspnoea
If large - cyanosis, clubbing
The AVM acts as a bypass to normal pulmonary circulation, so clots which would otherwise be sieved out can travel to the left side circulation - increased stroke risk
