Updated: 3/13/2022

Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)

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  • Snapshot
    • A 25-year-old man presents to the emergency department for a nosebleed. He says that the bleeding began earlier in the morning and occurred spontaneously. He denies any trauma to the nose or inhaling medications or illicit drugs through the nose. He has tried applying pressure to the nose but the bleeding still persists. He has a history of multiple episodes of epistaxis requiring medical attention. On physical exam, he has multiple telangiectasias on his lips.
  • Introduction
    • Definition
      • an autosomal dominant vascular disorder that is also known as hereditary hemorrhagic telangiectasia (HHT)
        • this disorder is characterized by
          • epistaxis
          • arteriovenous malformations (AVMs)
          • telangiectasias (small vascular malformations)
    • 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
  • 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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(M1.CV.12.72) A 20-year-old Caucasian male presents with recurrent nosebleeds. Complete history reveals his father died in his 40's after an intracranial hemorrhage and two of his father's five siblings have also had recurrent nosebleeds. Which of the following would you expect to find in this patient?

QID: 100588

Retinal hemangioblastoma

20%

(12/59)

Renal cell carcinoma

7%

(4/59)

Mucosal arteriovenous malformations

58%

(34/59)

Vestibular schwannoma

5%

(3/59)

Cafe-au-lait spots

8%

(5/59)

M 2 E

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