Vessel Wall Abnormalities


Hereditary Haemorrhagic Telangiectasia

  • Background/Epidemiology
    • Autosomal dominant condition caused by mutations encoding receptors for transforming growth factor-β (a powerful angiogenic cytokine).
    • Occurs in between 1 in 5000 and 1 in 8000
  • Presentation
    • Epistaxis (90%)
      • this is usually the initial presenting complaint at ~16-18 years old
    • Mucocutaneous telangiectasia and small aneurysms can develop over the fingertips, face, lips and tongue, conjunctiva, in the nasal passages, lungs and GI tract.
      • Usually occurs at 20-30 years old
    • Iron deficiency anaemia due to recurrent occult GI bleeding
    • Some patients may also have shortness of breath to to larger pulmonary arteriovenous malformations which cause a left-to-right shunt and hypoxia
      • Can also cause paradoxical emboli resulting in stroke or cerebral abscess
  • Diagnosis
    • At least 3 of:
      • Recurrent epistaxis
      • Telangiectasia
      • Visceral lesions
      • Family history
  • Management
    • Often iron treatment for iron deficiency anaemia
    • Local cautery/laser treatment may be useful for troublesome bleeding sites
    • Oestrogens can be used to improve symptoms (although their use is debated

Ehlers-Danlos syndrome (vascular type)


  • Vitamin C deficiency affects the normal synthesis of collagen and results in bleeding disorder characterised by perifollicular and petechial haemorrhage, bruising and subperiosteal bleeding.
  • Rare now in the developed world (and even in the developing world).
  • Poor diet is the main risk factor and symptoms will often resolve with reintroduction of vit C

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