• Autosomal dominant vascular disorder
  • Characterized by mucocutaneous bleeding and arteriovenous malformations

Clinical manifestations

  • Family history: first-degree relative with similar signs and symptoms
  • Symptoms
    • Recurrent epistaxis
    • Gastrointestinal bleeding
    • Symptomatic anaemia
      • Chest pain
      • Exertional dyspnoea
      • Fatigue
    • Cyanosis (intra-pulmonary shunting)
    • Haemoptysis (haemorrhage from intra-pulmonary AVM)
    • Stroke (paradoxical emboli)
    • Migraine
    • Sub-arachnoid haemorrhage (cerebral AVM)
  • Signs
    • Mucocutaneous telangiectasia
      • Inner aspect of lips
      • Roof of mouth
      • Inner aspect of cheeks
      • Peri-oral
      • On the chest
    • Respiratory (right-to-left shunt from AVM or associated primary pulmonary hypertension)
      • Clubbing
      • Cyanosis
      • Flushing (polycythaemia)
      • Right ventricular heave
      • Loud P2
    • Cardiovascular (high-output cardiac failure from left-to-right shunts)
      • Displaced apex beat
      • Pulmonary oedema
    • Gastrointestinal
      • Conjunctival pallor (iron deficiency anaemia)
      • Hepatomegaly, liver bruits
      • Asterixis (hepatic encephalopathy complicating gastrointestinal bleeding)
      • Signs of portal hypertension (AVMs creating shunts between hepatic artery and portal vein)
        • Splenomegaly
        • Ascites
        • Dilated umbilical veins
    • Neurological
      • Pronator drift (paradoxical emboli through pulmonary AVMs, SAH)
      • Surgical third nerve palsy

Investigation

  • Genetic testing to confirm diagnosis (not required, can be made clinically)
  • Full blood count looking for anaemia
  • Liver function tests – synthetic function of the liver
  • Iron studies – iron deficiency anaemia secondary to chronic blood loss
  • Screening for pulmonary AVM
    • High incidence of unsuspected pulmonary AVM
    • Evidence that treatment reduces stroke and brain abscess risk
    • May rupture in pregnancy, causing massive haemoptysis or haemothorax
    • Techniques
      • Trans-thoracic echocardiography with agitated saline contrast
      • Radionucleotide perfusion scanning
      • Helical computed tomography scanning (does not require contrast)
  • Magnetic resonance angiogram of the brain to screen for cerebral AVM

Management

  • Multidisciplinary team approach
  • Patient education
  • Genetic counselling
  • Iron replacement
  • Arteriovenous malformations
    • Localized embolisation for pulmonary AVMs
    • Embolisation or surgical excision of cerebral AVMs
  • Manage complications of portal hypertension
  • Management of localized bleeding
    • Tranexamic acid for recurrent bleeding
    • Chemical cautery (silver nitrate sticks)
    • Nasal packing
    • Endoscopic ablation of gastrointestinal lesions
  • Prophylactic antibiotics in patients with pulmonary AVM prior to dental procedures to prevent brain abscess
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