Vessel Wall Abnormalities

Congenital

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)

Scurvy

• 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

Advertisement