Osler-Weber-Rendu Disease

Excerpt

Hereditary hemorrhagic telangiectasia (HHT) is also known as Osler–Weber–Rendu disease. It is an autosomal dominant disorder characterized by multiple mucocutaneous telangiectasias. These telangiectasias represent small arterio-venous malformations that frequently tend to bleeds causing the patient a significant amount of distress in their daily lives. Patients typically present with nose bleeds, gastrointestinal (GI) bleeds, and iron deficiency anemia. This disease puts patients at risk for life-threatening complications from having arteriovenous malformations in several organ systems. It is critical for these patients to get the appropriate diagnostic screening they need to prevent internal bleeding or even death.