Updated: 3/16/2021

Hereditary Hemorrhagic Telangiectasia

0%
Topic
Review Topic
0
0
N/A
N/A
Questions
1
0
0
Topic
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

Please rate topic.

Average 5.0 of 3 Ratings

Questions (1)
Question locked
Sorry, this question is for
PEAK Premium Subscribers only
Upgrade to PEAK
EXPERT COMMENTS (0)
Private Note