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Revista Archivo Médico de Camagüey
On-line version ISSN 1025-0255
Abstract
DUQUE ESTRADA, Lidia et al. Rendu Osler Weber disease: one case report. AMC [online]. 2016, vol.20, n.6, pp. 735-743. ISSN 1025-0255.
Background: hereditary haemorrhagic telangiectasia (HHT) or Rendu Osler Weber Sickness is a dominant autosomic illness characterized by the presence of multiple telangiectasias on skin and mucus, associated to arterovenous malformations in different organs, including lungs, central nervous system 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. Objetive: to present a case with a diagnosis of HHT. Clinical case: A sixty-four-year-old female patient with a diagnosis of HHT 17 years ago, with episodes of frequent epistaxis and a family history of HHT (father, uncles on the father´s side and brothers) is admitted to the ICU with clinical manifestations, acute anemia and nodule lesions on her hands, fingers and auricular pavillion, with telangiectasias on the tongue. Conclusion: HHT is not a common illness but there are cases reported all over the world.
Keywords : TELANGIECTASIA, HEREDITARY HEMORRHAGIC [diagnosis]; ARTERIOVENOUS MALFORMATIONS; EPISTAXIS; CHROMOSOME ABERRATIONS; AGED.