Hereditary haemorrhagic telangiectasia
- Incidence: 2.00 cases per 100,000 person-years
- Peak incidence: 30-40 years
- Sex ratio: 1:1
- gastrointestinal tract
This is to screen for any telangiectasia or arteriovenous malformations (AVM). This is important as certain findings, e.g. cerebral AVMs require specialist management.
Genetic testing is also recommended.
- 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