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Updated: Dec 8 2021

Hereditary Hemorrhagic Telangiectasia

  • Snapshot
    • A 55-year-old man presents to the emergency department after developing acute left-sided weakness and slurred speach. Medical history is significant for hypertension, multiple episodes of epistaxis, and gastrointestinal telangiectasias that resulted in iron deficiency anemia. On physical exam, the patient is marked left-sided weakness, slurred speech, and hemineglect. He also has multiple telangiectasias on the lips. A non-contrast head CT demonstrates a right-sided hemorrhagic stroke.
  • Introduction
    • Definition
      • an autosomal dominant vascular disorder
        • this disorder is characterized by
          • epistaxis
          • arteriovenous malformations (AVMs)
          • telangiectasias
    • Pathophysiology
      • autosomal dominant genetic mutations that result in an abnormal vasculature (e.g., AVMs)
  • Presentation
    • Clinical presentation
      • epistaxis
        • patients can have recurrent episodes
      • visceral lesions
        • gastrointestinal telangiectasia
        • pulmonary AVMs
          • can result in embolic stroke and cerebral abscess
            • this results by the AVM creating a path for venous blood to bypass the pulmonary circulation
        • cerebral AVMs
          • can result in hemorrhagic stroke
      • telangiectasias
  • Studies
    • Iron deficiency anemia
      • secondary to blood loss
  • Treatment
    • Management is directed at the site of involvement
      • e.g., nasal lubrication and laser treatment for epistaxis
  • Complications
    • Hemorrhagic and embolic stroke
    • Iron deficiency anemia
    • Gastrointestinal bleeding
    • Pulmonary hypertension
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