Rendu-Osler-Weber Syndrome: A Case Report

Vladimir VukomanoviÄ‡; Milovan MatoviÄ‡; Vesna IgnjatoviÄ‡; Branislav BeliÄ‡

doi:10.3889/oamjms.2014.109

Authors

Vladimir VukomanoviÄ‡ Department of Nuclear Medicine, Clinical Center Kragujevac, Kragujevac; Faculty of Medical Sciences, University in Kragujevac, Kragujevac
Milovan MatoviÄ‡ Department of Nuclear Medicine, Clinical Center Kragujevac, Kragujevac; Faculty of Medical Sciences, University in Kragujevac, Kragujevac
Vesna IgnjatoviÄ‡ Department of Nuclear Medicine, Clinical Center Kragujevac, Kragujevac; Faculty of Medical Sciences, University in Kragujevac, Kragujevac
Branislav BeliÄ‡ Faculty of Medical Sciences, University in Kragujevac, Kragujevac; Clinic of Otorhinolaryngology, Clinical Center Kragujevac, Kragujevac

DOI:

https://doi.org/10.3889/oamjms.2014.109

Keywords:

hereditary haemorrhagic telangiectasia, Rendu-Osler-Weber syndrome, arteriovenous malformation, gastrointestinal bleeding, epistaxis.

Abstract

Hereditary hemorrhagic telangectasia (HHT) or Rendu-Osler-Weber syndrome, is a rare genetic disorder with autosomal dominance and variable penetrance. The typical findings of the disease are telangiectasias in skin and mucous membranes, and arteriovenous malformations presenting in the organs like lung, intestine, brain and liver. It is characterized by the classic triad of recurrent epistaxis, mucocutaneous telangiectasias and visceral hemorrhages, with familial occurrence.

This article describes a case of HHT of an adult patient, associated with multiple angiodysplasic injuries in the nasal mucosa, upper gastrointestinal tract, lungs and who presents continuous blood loss, resulting iron deficiency anemia. Based on clinical and diagnostic findings, we diagnosed this case as HHT, which has rarely been reported in our literature.

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