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Case of the Week 251 
What's the most likely diagnosis?
- 28 year-old male with epistaxis
- Splenic cyst
- Gastric outlet obstruction
- Osler-Weber-Rendu Disease
- Hepatocellular carcinoma
- Adrenal adenoma
Answer:
3. Osler-Weber-Rendu Disease
More (Click Discussion Tab)
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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