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Hereditary Haemorrhagic Telangiectasia (Osler-Weber-Rendu) – Evidence Reviewed

Hereditary Haemorrhagic Telangiectasia (Osler-Weber-Rendu)

///Hereditary Haemorrhagic Telangiectasia (Osler-Weber-Rendu)
Hereditary Haemorrhagic Telangiectasia (Osler-Weber-Rendu) 2018-01-30T16:36:18+08:00
  • 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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This Sliding Bar can be switched on or off in theme options, and can take any widget you throw at it or even fill it with your custom HTML Code. Its perfect for grabbing the attention of your viewers. Choose between 1, 2, 3 or 4 columns, set the background color, widget divider color, activate transparency, a top border or fully disable it on desktop and mobile.