Hereditary haemorrhagic telangiectasia is a rare genetic disorder characterised by the abnormal formation of blood vessels (telangiectasia and arteriovenous malformations [AVMs]). These vascular anomalies can lead to significant bleeding, most commonly presenting as epistaxis and gastrointestinal bleeding.

PC

• Epistaxis
• Symptoms of anaemia
• Gastrointestinal blood loss
• Embolic manifestations such as stroke and myocardial infarction

Investigations

• Physical examination, particularly of the nose via nasoendoscopy, may visibly reveal areas of telangiectasia.
• Imaging tests such as computed tomography (CT) or magnetic resonance imaging (MRI) can identify other areas of telangiectasia and arteriovenous malformations.
• Family history is also important to investigate, as HHT is a hereditary condition.

Management

• Blood transfusion may be necessary if blood loss is severe.
• Iron supplementation is indicated for patients with iron deficiency anaemia.
• Embolisation of arteriovenous malformations within organs (e.g., lung, liver) can help manage the condition.