Rendu-Osler-Weber Syndrome

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Other Names :  

Osler-Weber-Rendu Disease, Osler-Weber-Rendu syndrome, Hereditary hemorrhagic telangiectasia

What is Rendu-Osler-Weber Syndrome ?  

A rare autosomal dominant dominant disorder involving blood vessels throughout the body and results in a tendency of bleeding. Abnormal blood vessels are formed in the skin, mucous membranes and sometimes in organs such as liver, lungs and brain.

Cause(s) :  
  • Gene mutation
Symptoms :  
  • Small blood vessel formations - Telangiectasias - in the mucosal linings of nose and GI tract
  • Epistaxis - nosebleeds
  • Vascular formations in skin of lips, nose, fingers and face
  • Bloody vomiting and black stool when the lesions of the GI tract bleed
  • Iron-deficiency anemia
  • Arteriovenous malformation in larger organs such as lungs, liver and brain, rarely in spinal cord
  • Arteriovenous malformations may occasionally exert pressure, leading to headaches
  • Risk of seizures
  • Hemorrhage from an arteriovenous malformation may lead to intracerebral hemorrhage and stroke
  • Less common associated problems:
  • Multiple benign polyps in the large intestine
  • Pulmonary hypertension
  • Peripheral edema, chest pain due to pressure on the right side of the heart
Diagnosis and Tests :  
  • Clinical examination for telangiectasias
  • Endoscopy
  • Laryngoscopy
  • Esophagogastroduodenoscopy (endoscopy of esophagus, stomach and first of the three parts of small intestine)
  • Capsule endoscopy
  • Detailed medical imaging of organs at risk for arteriovenous malformations
  • Chest X-ray
  • Arterial blood gas determination
  • Bubble contrast echocardiography
  • Contrast-enhanced computed tomography for lungs
  • Echocardiography
  • Doppler ultrasonography of the liver
  • Liver biopsy
  • CT angiography or Magnetic resonance angiography
  • Genetic testing
Specialist to consult :  Genetics

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