Osler-Weber-Rendu syndrome: apropos a case

Abstract

Hereditary hemorrhagic telangiectasia or Osler-Weber-Rendu syndrome is a rare dominant autosomal disease affecting 1:5 000 and 1:10 000 people worldwide. It is clinically characterized by recurrent epistaxis and telangiectasias on the face, hands and oral cavity, arteriovenous malformations and a positive family history. It may affect solid organs and threaten life due to hepatic alterations, systemic embolisms and heart failure. Hence the importance of making a timely diagnosis. A case is presented of a male 45-year-old patient treated at Julio Trigo López Clinical Surgical Hospital in Havana for a clinical status of long evolution consisting in telangiectasias on his face. The patient reported similar antecedents in other family members, as well as episodes of epistaxis which have been managed with local treatment. A study was conducted which confirmed the diagnosis of Osler-Weber-Rendu syndrome. The case is presented due to the interesting characteristics and low frequency of this disease in our environment.