Abstract

DEL TORO RAVELO, Laydenis María et al. Rendu-Osler-Weber´s disease with unusual presentation. Rev Cuba Reumatol [online]. 2022, vol.24, n.2  Epub Oct 01, 2022. ISSN 1817-5996.

Rendu-Osler-Weber´s disease, also known as hereditary hemorrhagic telangiectasia, is a genetic disease of autosomal dominant inheritance with incomplete penetrance. It affects both sexes equally and symptoms usually begin between the ages of 20 and 40, but it is considered that the disease is underdiagnosed. Typically, the clinical forms and the onset of this disease are associated with the organs and tissues that are most frequently affected: mucosal and skin telangiectasias, epistaxis, gastrointestinal, pulmonary and intracerebral bleeding. In contrast, the clinical case that is presented is characterized because the first clinical manifestations that motivated the medical consultation were crises of pain and bone inflammation in the right upper limb, which is unusual and is inscribed as an element of novelty in the disease. The objective of this publication is to present a case of hereditary hemorrhagic telangiectasia with an atypical presentation in a female teenager.

Keywords : Rendu-Osler-Wever´s disease; arteriovenous malformations; hereditary hemorrhagic telangiectasia; teenager.

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