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Case of the Week 251

What's the most likely diagnosis?

  • 28 year-old male with epistaxis

  1. Splenic cyst
  2. Gastric outlet obstruction
  3. Osler-Weber-Rendu Disease
  4. Hepatocellular carcinoma
  5. Adrenal adenoma



3. Osler-Weber-Rendu Disease



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Osler-Weber-Rendu Disease

General considerations

  • Also known as hereditary hemorrhagic telangiectasia (HHT) and Rendu-Osler-Weber syndrome
  • It is a disease characterized by mucosal and cutaneous telangiectasias and arteriovenous malformations (AVMs)
  • Oddly enough, Osler-Weber-Rendu Disease (OWRD) was first described by Sutton in 1864 but, alas, Sutton’s name is not on the disease
    • The disease is named after Henri Rendu (1896), Sir William Osler (1901) and Frederick Parks Weber (1907) who described various aspects of the syndrome in the years cited
    • Pronounced OHz-ler, ren-DYU, and VAY-ber (Germanic pronunciation of his name)
  • It is autosomal dominant with variable penetrance
    • Most frequent cause maps to the long arm of chromosome 9
  • Affects both sexes evenly


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