Hereditary hemorrhagic telangiectasia

Background

• AKA Osler–Weber–Rendu disease
• Rare genetic dysfunction of angiogenesis that leads to multiple vascular malformations

Clinical Features

• Telangiectasias
  • Skin/oral mucosa, characteristically on lips, nose, fingers, face (in sun exposed areas)
  • Nasal mucosa --> epistaxis
  • GI tract (~20%)--> GI bleeding
• AVMs
  • Lungs
    • Bypassing pulmonary vasculature can --> brain abscess, embolic stroke
    • Hemoptysis, hemothorax, dyspnea, abnormal lung sounds
  • Liver
  • Brain
    • Headache, increased seizure risk, risk of ICH