Enfermedad de Rendu Osler Weber: presentación de un caso

Résumé fourni par la source

Background: hereditary haemorrhagic telangiectasia or Rendu Osler Weber Sickness is a dominant autosomic illness characterized by the presence of multiple telangiectasias on skin and mu-cus, associated to arterovenous malformations in different organs, including lungs, central nervous sys-tem and gastrointestinal system. Its prognosis is uncertain. It is possible to improve the quality of life by diagnosing and treating it early, therefore a life expectancy similar to the general population can be reached. Objective: to present a case with a diagnosis of hereditary haemorrhagic telangiectasia. Clinical case: a sixty-four-year-old female patient with a diagnosis of hereditary haemorrhagic telangiectasia 17 years ago, with episodes of frequent epistaxis and a family history of hereditary haemorrhagic telangiectasia (father, uncles on the father´s side and brothers) is ad-mitted to the ICU with clinical manifestations, acute anemia and nodule lesions on her hands, fingers and auricular pavillion, with telangiectasias on the tongue. Conclusions: hereditary haemorrhagic telangiectasia is not a common illness but there are cases reported all over the world. DeCS: hereditary haemorrhagic telangiectasia is not a common illness but there are cases reported all over the world.