A Rare Presentation of Osler-Weber-Rendu Disease as Severe Anemia.

ABSTRACT

Hereditary hemorrhagic telangiectasia (HHT) or Osler-Weber-Rendu disease is a rare fibrovascular dysplasia that makes vascular walls vulnerable to trauma and rupture causing skin and mucosal bleeding. It is of autosomal dominant inheritance characterized by recurrent epistaxis and telangiectasia on the face, hands and oral cavity; visceral arteriovenous malformations (AVMs) and positive family history. Epistaxis is often the foremost manifestation. It is associated with AVMs in several organs. There are possible hematologic, neurologic, pulmonary, dermatologic and gastrointestinal complications. Treatment is supportive and helps prevent complications. We report herein a patient with this syndrome who came to Medicine Unit first at our hospital.