Hereditary haemorrhagic telangiectasia

Question 1

Hereditary haemorrhagic telangiectasia

Answer 1

• also called ‘Osler-Weber-Rendu syndrome’
• autosomal dominant condition
• multiple telangiectasia over skin and mucous membranes
• 20% cases have no family history

Question 2

Diagnostic criteria for hereditary haemorrhagic telangiectasia (HHT)

Answer 2

4 criteria: 3 or > for diagnosis

1. epistaxis
2. telangiextases (lips, oral cavity, fingers, nose)
3. visceral lesions (e.g. GI, pulmonary arteriovenous malformations)
4. family history (first degree relative with HHT)