156 Hereditary haemorrhagic telangiectasia (Rendu–Osler–Weber disease)
Instruction
Examine the patient’s face and obtain a relevant history.
Perform a general examination.
Salient features
History
• Does it run in the family (autosomal dominant)?
• Is there a history of GI bleeding?
• Is there a history of epistaxis?
• Is there a history of repeated blood transfusions?
• Is there a history of dyspnoea, fatigue, cyanosis or polycythaemia (pulmonary arteriovenous malformations)?
• Is there a history of headaches, subarachnoid haemorrhage (cerebral arteriovenous malformations)?
Examination
• Punctiform lesions and dilated small vessels present on the face, in particular around the mouth (Fig. 156.1)
• The patient may be pale (as a result of iron-deficiency anaemia).
• Look into the patient’s mouth and inspect the tongue and palate for telangiectasia.
• Examine the nail beds, arms, trunk for telangiectasia.
• Examine the chest for bruits (pulmonary arteriovenous malformations with a predilection for lower lobes).
• Look for signs of cardiac failure caused by left-to-right shunting and hepatic bruits (both from hepatic arteriovenous malformations) (N Engl J Med 2000;343:938–52).
