Osler–Weber–Rendu syndrome (hereditary haemorrhagic telangiectasia)

Question 1

Osler–Weber–Rendu syndrome (hereditary haemorrhagic

telangiectasia)

Topics that will be covered;
Clinical signs

Extra points

Discussion

Answer 1

Clinical signs
* Multiple telangiectasia on the face, lips and buccal mucosa
Extra points
* Anaemia: gastrointestinal bleeding
* Cyanosis and chest bruit: pulmonary vascular abnormality/shunt
Discussion
* Autosomal dominant
* Increased risk gastrointestinal haemorrhage, epistaxis and haemoptysis
* Vascular malformations:
⚬ Pulmonary shunts
⚬ Intracranial aneurysms: subarachnoid haemorrhage